WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs16904179
gnomAD v2:
8-130958951-G-A
gnomAD v3:
8-129946705-G-A
gnomAD v4:
8-129946705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129946705G>A , CM000670.2:g.129946705G>A | GRCh38 |
| NC_000008.10:g.130958951G>A , CM000670.1:g.130958951G>A | GRCh37 |
| NC_000008.9:g.131028133G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000694912.1:c.-137+24238C>T MANE Select | ENSP00000511587.1:n.-137+24238C>T | |
| ENST00000699094.1:c.-137+24238C>T | ENSP00000514126.1:n.-137+24238C>T | |
| ENST00000703342.1:c.-137+24238C>T | ENSP00000515265.1:n.-137+24238C>T | |
| ENST00000401979.6:c.-243+24238C>T | ENSP00000384880.2:n.-243+24238C>T | |
| ENST00000517654.5:c.-50+24238C>T | ENSP00000430674.1:n.-50+24238C>T | |
| ENST00000517672.5:c.-330+24238C>T | ENSP00000430434.1:n.-330+24238C>T | |
| ENST00000518167.5:c.-132-43355C>T | ENSP00000427994.1:n.-132-43355C>T | |
| ENST00000518283.5:c.-195+24238C>T | ENSP00000430694.1:n.-195+24238C>T | |
| ENST00000518879.5:n.451+2261C>T | ||
| ENST00000519020.5:c.-128+24238C>T | ENSP00000429659.1:n.-128+24238C>T | |
| ENST00000519110.5:c.-137+24238C>T | ENSP00000429078.1:n.-137+24238C>T | |
| ENST00000519142.5:c.-183+24238C>T | ENSP00000430806.1:n.-183+24238C>T | |
| ENST00000521223.5:n.137+24238C>T | ||
| ENST00000522361.1:c.-96+24238C>T | ENSP00000430412.1:n.-96+24238C>T | |
| ENST00000522702.5:n.84+24238C>T | ||
| ENST00000523288.5:n.144+24238C>T | ||
| ENST00000523509.5:c.-233+24238C>T | ENSP00000429802.1:n.-233+24238C>T | |
| ENST00000523993.5:c.-137+24238C>T | ENSP00000429074.1:n.-137+24238C>T | |
| NR_046360.1:n.335+24238C>T | ||
| NR_046361.1:n.335+24238C>T | ||
| XM_011517107.1:c.48+14344C>T | XP_011515409.1:n.48+14344C>T | |
| XM_011517108.1:c.-137+24238C>T | XP_011515410.1:n.-137+24238C>T | |
| XM_011517109.1:c.-137+24238C>T | XP_011515411.1:n.-137+24238C>T | |
| XM_011517110.1:c.-50+24238C>T | XP_011515412.1:n.-50+24238C>T | |
| XM_011517111.1:c.-50+24238C>T | XP_011515413.1:n.-50+24238C>T | |
| XM_011517112.1:c.-320+24238C>T | XP_011515414.1:n.-320+24238C>T | |
| XM_011517114.1:c.-96+24238C>T | XP_011515416.1:n.-96+24238C>T | |
| XM_011517116.1:c.-137+24238C>T | XP_011515418.1:n.-137+24238C>T | |
| XM_011517118.1:c.-50+24238C>T | XP_011515420.1:n.-50+24238C>T | |
| XM_011517119.1:c.-96+24238C>T | XP_011515421.1:n.-96+24238C>T | |
| XM_011517121.1:c.-202+24238C>T | XP_011515423.1:n.-202+24238C>T | |
| XM_011517122.1:c.-492+24238C>T | XP_011515424.1:n.-492+24238C>T | |
| XM_011517123.1:c.-492+24238C>T | XP_011515425.1:n.-492+24238C>T | |
| XM_011517125.1:c.-405+24238C>T | XP_011515427.1:n.-405+24238C>T | |
| NM_001353242.1:c.-243+24238C>T | NP_001340171.1:n.-243+24238C>T | |
| NM_001353243.1:c.-233+24238C>T | NP_001340172.1:n.-233+24238C>T | |
| NM_001353245.1:c.-137+24238C>T | NP_001340174.1:n.-137+24238C>T | |
| NM_001353246.1:c.-136-42120C>T | NP_001340175.1:n.-136-42120C>T | |
| NM_001353247.1:c.-183+24238C>T | NP_001340176.1:n.-183+24238C>T | |
| NM_001353248.1:c.-133+24238C>T | NP_001340177.1:n.-133+24238C>T | |
| NM_001353249.1:c.-50+24238C>T | NP_001340178.1:n.-50+24238C>T | |
| NM_001353250.1:c.-137+24238C>T | NP_001340179.1:n.-137+24238C>T | |
| NM_001353251.1:c.-366+24238C>T | NP_001340180.1:n.-366+24238C>T | |
| NM_001353252.1:c.-49-43355C>T | NP_001340181.1:n.-49-43355C>T | |
| NM_001353253.1:c.-233+24238C>T | NP_001340182.1:n.-233+24238C>T | |
| NM_001353254.1:c.-220+24238C>T | NP_001340183.1:n.-220+24238C>T | |
| NM_001353255.1:c.-243+24238C>T | NP_001340184.1:n.-243+24238C>T | |
| NM_001353256.1:c.-96+24238C>T | NP_001340185.1:n.-96+24238C>T | |
| NM_001353257.1:c.-11+24238C>T | NP_001340186.1:n.-11+24238C>T | |
| NM_001353258.1:c.-137+24238C>T | NP_001340187.1:n.-137+24238C>T | |
| NM_001353259.1:c.-320+24238C>T | NP_001340188.1:n.-320+24238C>T | |
| NM_001353260.1:c.-50+24238C>T | NP_001340189.1:n.-50+24238C>T | |
| NM_001353261.1:c.-183+24238C>T | NP_001340190.1:n.-183+24238C>T | |
| NM_001353262.1:c.-136-42120C>T | NP_001340191.1:n.-136-42120C>T | |
| NM_001353263.1:c.-49-43355C>T | NP_001340192.1:n.-49-43355C>T | |
| NM_001353269.1:c.-299+24238C>T | NP_001340198.1:n.-299+24238C>T | |
| NM_001353270.1:c.-492+24238C>T | NP_001340199.1:n.-492+24238C>T | |
| NM_001353271.1:c.-405+24238C>T | NP_001340200.1:n.-405+24238C>T | |
| NM_001353272.1:c.-583+24238C>T | NP_001340201.1:n.-583+24238C>T | |
| NM_001353273.1:c.-382+24238C>T | NP_001340202.1:n.-382+24238C>T | |
| NM_001353274.1:c.-491-42120C>T | NP_001340203.1:n.-491-42120C>T | |
| NM_001353275.1:c.-666+24238C>T | NP_001340204.1:n.-666+24238C>T | |
| NM_001353276.1:c.-405+24238C>T | NP_001340205.1:n.-405+24238C>T | |
| NM_001353277.1:c.-366+24238C>T | NP_001340206.1:n.-366+24238C>T | |
| NM_001353278.1:c.-500+24238C>T | NP_001340207.1:n.-500+24238C>T | |
| NM_001353279.1:c.-538+24238C>T | NP_001340208.1:n.-538+24238C>T | |
| NM_001353280.1:c.-413+24238C>T | NP_001340209.1:n.-413+24238C>T | |
| NM_001353281.1:c.-492+24238C>T | NP_001340210.1:n.-492+24238C>T | |
| NM_001353282.1:c.-299+24238C>T | NP_001340211.1:n.-299+24238C>T | |
| NM_001353283.1:c.-366+24238C>T | NP_001340212.1:n.-366+24238C>T | |
| NM_001353284.1:c.-451+24238C>T | NP_001340213.1:n.-451+24238C>T | |
| NM_001353285.1:c.-492+24238C>T | NP_001340214.1:n.-492+24238C>T | |
| NM_001353286.1:c.-386+24238C>T | NP_001340215.1:n.-386+24238C>T | |
| NM_001353287.1:c.-583+24238C>T | NP_001340216.1:n.-583+24238C>T | |
| NM_001353288.1:c.-382+24238C>T | NP_001340217.1:n.-382+24238C>T | |
| NM_001353289.1:c.-538+24238C>T | NP_001340218.1:n.-538+24238C>T | |
| NM_001353290.1:c.-500+24238C>T | NP_001340219.1:n.-500+24238C>T | |
| NM_001353291.1:c.-436+24238C>T | NP_001340220.1:n.-436+24238C>T | |
| NM_001353292.1:c.-491-42120C>T | NP_001340221.1:n.-491-42120C>T | |
| NM_001353293.1:c.-404-43355C>T | NP_001340222.1:n.-404-43355C>T | |
| NM_001353294.1:c.-469+24238C>T | NP_001340223.1:n.-469+24238C>T | |
| NM_001353302.1:c.-137+24238C>T | NP_001340231.1:n.-137+24238C>T | |
| NM_001353303.1:c.-81+24238C>T | NP_001340232.1:n.-81+24238C>T | |
| NM_001353304.1:c.-136-42120C>T | NP_001340233.1:n.-136-42120C>T | |
| NM_001353305.1:c.-49-43355C>T | NP_001340234.1:n.-49-43355C>T | |
| NM_001353306.1:c.-50+24238C>T | NP_001340235.1:n.-50+24238C>T | |
| NM_001353307.1:c.-137+24238C>T | NP_001340236.1:n.-137+24238C>T | |
| NM_001353308.1:c.-50+24238C>T | NP_001340237.1:n.-50+24238C>T | |
| NM_001353309.1:c.-243+24238C>T | NP_001340238.1:n.-243+24238C>T | |
| NM_001353310.1:c.-136-42120C>T | NP_001340239.1:n.-136-42120C>T | |
| NM_001353311.1:c.-194-34288C>T | NP_001340240.1:n.-194-34288C>T | |
| NM_001353312.1:c.-183+24238C>T | NP_001340241.1:n.-183+24238C>T | |
| NM_001353316.1:c.-97+24238C>T | NP_001340245.1:n.-97+24238C>T | |
| XM_011517112.3:c.-320+24238C>T | XP_011515414.1:n.-320+24238C>T | |
| XM_011517121.3:c.-202+24238C>T | XP_011515423.1:n.-202+24238C>T | |
| XM_017013545.2:c.-366+24238C>T | XP_016869034.1:n.-366+24238C>T | |
| XM_017013551.2:c.-279+24238C>T | XP_016869040.1:n.-279+24238C>T | |
| XM_017013554.2:c.-208+24238C>T | XP_016869043.1:n.-208+24238C>T | |
| XM_017013557.2:c.-96+24238C>T | XP_016869046.1:n.-96+24238C>T | |
| XM_024447180.1:c.-202+24238C>T | XP_024302948.1:n.-202+24238C>T | |
| NM_001353242.2:c.-243+24238C>T | NP_001340171.1:n.-243+24238C>T | |
| NM_001353243.2:c.-233+24238C>T | NP_001340172.1:n.-233+24238C>T | |
| NM_001353248.2:c.-133+24238C>T | NP_001340177.1:n.-133+24238C>T | |
| NM_001353254.2:c.-220+24238C>T | NP_001340183.1:n.-220+24238C>T | |
| NM_001353256.2:c.-96+24238C>T | NP_001340185.1:n.-96+24238C>T | |
| NM_001353257.2:c.-11+24238C>T | NP_001340186.1:n.-11+24238C>T | |
| NM_001353258.2:c.-137+24238C>T MANE Select | NP_001340187.1:n.-137+24238C>T | |
| NM_001353259.2:c.-320+24238C>T | NP_001340188.1:n.-320+24238C>T | |
| NM_001353260.2:c.-50+24238C>T | NP_001340189.1:n.-50+24238C>T | |
| NM_001353261.2:c.-183+24238C>T | NP_001340190.1:n.-183+24238C>T | |
| NM_001353262.2:c.-136-42120C>T | NP_001340191.1:n.-136-42120C>T | |
| NM_001353263.2:c.-49-43355C>T | NP_001340192.1:n.-49-43355C>T | |
| NM_001353276.2:c.-405+24238C>T | NP_001340205.1:n.-405+24238C>T | |
| NM_001353282.2:c.-299+24238C>T | NP_001340211.1:n.-299+24238C>T | |
| NM_001353283.2:c.-366+24238C>T | NP_001340212.1:n.-366+24238C>T | |
| NM_001353284.2:c.-451+24238C>T | NP_001340213.1:n.-451+24238C>T | |
| NM_001353285.2:c.-492+24238C>T | NP_001340214.1:n.-492+24238C>T | |
| NM_001353286.2:c.-386+24238C>T | NP_001340215.1:n.-386+24238C>T | |
| NM_001353287.2:c.-583+24238C>T | NP_001340216.1:n.-583+24238C>T | |
| NM_001353288.2:c.-382+24238C>T | NP_001340217.1:n.-382+24238C>T | |
| NM_001353289.2:c.-538+24238C>T | NP_001340218.1:n.-538+24238C>T | |
| NM_001353290.2:c.-500+24238C>T | NP_001340219.1:n.-500+24238C>T | |
| NM_001353291.2:c.-436+24238C>T | NP_001340220.1:n.-436+24238C>T | |
| NM_001353292.2:c.-491-42120C>T | NP_001340221.1:n.-491-42120C>T | |
| NM_001353293.2:c.-404-43355C>T | NP_001340222.1:n.-404-43355C>T | |
| NM_001353294.2:c.-469+24238C>T | NP_001340223.1:n.-469+24238C>T | |
| NM_001353306.2:c.-50+24238C>T | NP_001340235.1:n.-50+24238C>T | |
| NM_001353307.2:c.-137+24238C>T | NP_001340236.1:n.-137+24238C>T | |
| NM_001353310.2:c.-136-42120C>T | NP_001340239.1:n.-136-42120C>T | |
| NM_001353311.2:c.-194-34288C>T | NP_001340240.1:n.-194-34288C>T | |
| NM_001353312.2:c.-183+24238C>T | NP_001340241.1:n.-183+24238C>T | |
| NM_001353316.2:c.-97+24238C>T | NP_001340245.1:n.-97+24238C>T |