UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1436900
gnomAD v2:
1-217058479-C-T
gnomAD v3:
1-216885137-C-T
gnomAD v4:
1-216885137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216885137C>T , CM000663.2:g.216885137C>T | GRCh38 |
| NC_000001.10:g.217058479C>T , CM000663.1:g.217058479C>T | GRCh37 |
| NC_000001.9:g.215125102C>T | NCBI36 |
| NG_029784.1:g.257619G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673908.1:c.-14+54445G>A | ENSP00000500992.1:n.-14+54445G>A | |
| ENST00000359162.6:c.-14+54445G>A | ENSP00000352077.2:n.-14+54445G>A | |
| ENST00000361395.6:c.-131-19959G>A | ENSP00000354584.2:n.-131-19959G>A | |
| ENST00000361525.7:c.-131-19959G>A | ENSP00000355225.3:n.-131-19959G>A | |
| ENST00000366938.6:c.-190+54445G>A | ENSP00000355905.2:n.-190+54445G>A | |
| ENST00000366940.6:c.-14+54445G>A | ENSP00000355907.2:n.-14+54445G>A | |
| ENST00000459825.1:n.260-19959G>A | ||
| ENST00000463665.5:c.-131-19959G>A | ENSP00000418629.1:n.-131-19959G>A | |
| ENST00000471371.5:n.223-19959G>A | ||
| ENST00000477799.5:n.318-19959G>A | ||
| ENST00000487276.5:c.-131-19959G>A | ENSP00000419155.1:n.-131-19959G>A | |
| ENST00000488947.5:n.210-19959G>A | ||
| ENST00000493603.5:c.-131-19959G>A | ENSP00000419594.1:n.-131-19959G>A | |
| ENST00000493748.5:c.-14+54445G>A | ENSP00000417374.1:n.-14+54445G>A | |
| ENST00000586199.5:c.-58+54445G>A | ENSP00000466343.1:n.-58+54445G>A | |
| NM_001134285.2:c.-14+54445G>A | NP_001127757.1:n.-14+54445G>A | |
| NM_001243505.1:c.-282-19959G>A | NP_001230434.1:n.-282-19959G>A | |
| NM_001243506.1:c.-84+54445G>A | NP_001230435.1:n.-84+54445G>A | |
| NM_001243507.1:c.-131-19959G>A | NP_001230436.1:n.-131-19959G>A | |
| NM_001243509.1:c.-14+54445G>A | NP_001230438.1:n.-14+54445G>A | |
| NM_001243510.2:c.-131-19959G>A | NP_001230439.1:n.-131-19959G>A | |
| NM_001243511.2:c.-14+54445G>A | NP_001230440.1:n.-14+54445G>A | |
| NM_001243512.1:c.-131-19959G>A | NP_001230441.1:n.-131-19959G>A | |
| NM_001243513.1:c.-190+54445G>A | NP_001230442.1:n.-190+54445G>A | |
| NM_206594.2:c.-131-19959G>A | NP_996317.1:n.-131-19959G>A | |
| NM_206595.2:c.-14+54445G>A | NP_996318.1:n.-14+54445G>A | |
| XM_006711205.1:c.-14+54445G>A | XP_006711268.1:n.-14+54445G>A | |
| XM_011509265.1:c.92+20111G>A | XP_011507567.1:n.92+20111G>A | |
| XM_011509266.1:c.92+20111G>A | XP_011507568.1:n.92+20111G>A | |
| XM_011509273.1:c.-244-19959G>A | XP_011507575.1:n.-244-19959G>A | |
| XM_011509274.1:c.-14+54445G>A | XP_011507576.1:n.-14+54445G>A | |
| XM_011509275.1:c.-14+54445G>A | XP_011507577.1:n.-14+54445G>A | |
| XM_011509277.1:c.-14+54445G>A | XP_011507579.1:n.-14+54445G>A | |
| XM_011509278.1:c.-14+54445G>A | XP_011507580.1:n.-14+54445G>A | |
| NM_001350122.1:c.-192-30012G>A | NP_001337051.1:n.-192-30012G>A | |
| NM_001350123.1:c.-14+20428G>A | NP_001337052.1:n.-14+20428G>A | |
| NM_001350124.1:c.-310-19959G>A | NP_001337053.1:n.-310-19959G>A | |
| NM_001350125.1:c.-14+54445G>A | NP_001337054.1:n.-14+54445G>A | |
| XM_011509265.3:c.92+20111G>A | XP_011507567.1:n.92+20111G>A | |
| XM_011509266.3:c.92+20111G>A | XP_011507568.1:n.92+20111G>A | |
| XM_017000621.2:c.92+20111G>A | XP_016856110.1:n.92+20111G>A | |
| XM_017000622.1:c.92+20111G>A | XP_016856111.1:n.92+20111G>A | |
| XM_017000623.2:c.92+20111G>A | XP_016856112.1:n.92+20111G>A | |
| XM_017000624.2:c.92+20111G>A | XP_016856113.1:n.92+20111G>A | |
| XM_017000625.1:c.92+20111G>A | XP_016856114.1:n.92+20111G>A | |
| XM_017000631.2:c.-131-19959G>A | XP_016856120.1:n.-131-19959G>A | |
| XM_017000632.2:c.-310-19959G>A | XP_016856121.1:n.-310-19959G>A | |
| XM_017000633.1:c.-131-19959G>A | XP_016856122.1:n.-131-19959G>A | |
| XM_017000634.2:c.-14+20428G>A | XP_016856123.1:n.-14+20428G>A | |
| XM_017000636.2:c.-310-19959G>A | XP_016856125.1:n.-310-19959G>A | |
| XM_017000637.1:c.-310-19959G>A | XP_016856126.1:n.-310-19959G>A | |
| XM_017000638.2:c.-131-19959G>A | XP_016856127.1:n.-131-19959G>A | |
| XM_017000639.1:c.-131-19959G>A | XP_016856128.1:n.-131-19959G>A | |
| XM_017000644.1:c.-14+54445G>A | XP_016856133.1:n.-14+54445G>A | |
| XM_017000645.1:c.-14+54445G>A | XP_016856134.1:n.-14+54445G>A | |
| XM_024453959.1:c.-131-19959G>A | XP_024309727.1:n.-131-19959G>A | |
| XM_024453960.1:c.-131-19959G>A | XP_024309728.1:n.-131-19959G>A | |
| XM_024453975.1:c.-131-19959G>A | XP_024309743.1:n.-131-19959G>A | |
| XM_024453979.1:c.-131-19959G>A | XP_024309747.1:n.-131-19959G>A | |
| XM_024453980.1:c.-131-19959G>A | XP_024309748.1:n.-131-19959G>A | |
| NM_001134285.3:c.-14+54445G>A | NP_001127757.1:n.-14+54445G>A | |
| NM_001243505.2:c.-282-19959G>A | NP_001230434.1:n.-282-19959G>A | |
| NM_001243506.2:c.-84+54445G>A | NP_001230435.1:n.-84+54445G>A | |
| NM_001243507.2:c.-131-19959G>A | NP_001230436.1:n.-131-19959G>A | |
| NM_001243509.2:c.-14+54445G>A | NP_001230438.1:n.-14+54445G>A | |
| NM_001243510.3:c.-131-19959G>A | NP_001230439.1:n.-131-19959G>A | |
| NM_001243511.3:c.-14+54445G>A | NP_001230440.1:n.-14+54445G>A | |
| NM_001350122.2:c.-192-30012G>A | NP_001337051.1:n.-192-30012G>A | |
| NM_001350123.2:c.-14+20428G>A | NP_001337052.1:n.-14+20428G>A | |
| NM_001350124.2:c.-310-19959G>A | NP_001337053.1:n.-310-19959G>A | |
| NM_001350125.2:c.-14+54445G>A | NP_001337054.1:n.-14+54445G>A | |
| NM_206595.3:c.-14+54445G>A | NP_996318.1:n.-14+54445G>A | |
| NM_206594.3:c.-131-19959G>A | NP_996317.1:n.-131-19959G>A |