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
ClinVar Variation Id:
1365130
ClinVar RCV Id:
RCV001942580
dbSNP Id:
rs12338
ExAC:
8:11710888 G / T
gnomAD v2:
8-11710888-G-T
gnomAD v3:
8-11853379-G-T
gnomAD v4:
8-11853379-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11853379G>T , CM000670.2:g.11853379G>T | GRCh38 |
| NC_000008.10:g.11710888G>T , CM000670.1:g.11710888G>T | GRCh37 |
| NC_000008.9:g.11748297G>T | NCBI36 |
| NG_009217.1:g.19759C>A | |
| NG_009217.2:g.19759C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528965.3:c.76C>A | ENSP00000433929.2:p.Leu26Met | |
| ENST00000532392.3:c.76C>A | ENSP00000432408.2:p.Leu26Met | |
| ENST00000534636.7:n.215C>A | ||
| ENST00000345125.8:c.76C>A | ENSP00000342070.3:p.Leu26Met | |
| ENST00000353047.11:c.76C>A MANE Select | ENSP00000345672.5:p.Leu26Met | |
| ENST00000453527.7:c.76C>A | ENSP00000409917.3:p.Leu26Met | |
| ENST00000505496.7:c.76C>A | ENSP00000435650.2:p.Leu26Met | |
| ENST00000524500.6:c.76C>A | ENSP00000436074.2:p.Leu26Met | |
| ENST00000524654.2:c.76C>A | ENSP00000432077.2:p.Leu26Met | |
| ENST00000525076.6:n.144C>A | ||
| ENST00000526195.6:c.76C>A | ENSP00000436627.2:p.Leu26Met | |
| ENST00000526481.7:c.76C>A | ENSP00000473301.2:p.Leu26Met | |
| ENST00000526645.6:c.76C>A | ENSP00000431518.2:p.Leu26Met | |
| ENST00000527215.7:c.76C>A | ENSP00000433379.3:p.Leu26Met | |
| ENST00000527243.6:c.76C>A | ENSP00000434725.2:p.Leu26Met | |
| ENST00000528965.2:c.76C>A | ENSP00000433929.2:p.Leu26Met | |
| ENST00000530296.6:c.76C>A | ENSP00000435074.2:p.Leu26Met | |
| ENST00000530640.7:c.76C>A | ENSP00000435105.1:p.Leu26Met | |
| ENST00000531089.6:c.76C>A | ENSP00000433215.1:p.Leu26Met | |
| ENST00000531502.6:c.76C>A | ENSP00000435886.2:p.Leu26Met | |
| ENST00000532392.2:c.76C>A | ENSP00000432408.2:p.Leu26Met | |
| ENST00000532656.7:c.76C>A | ENSP00000431143.2:p.Leu26Met | |
| ENST00000533455.6:c.76C>A | ENSP00000432244.1:p.Leu26Met | |
| ENST00000533572.6:c.76C>A | ENSP00000433995.2:p.Leu26Met | |
| ENST00000534149.6:c.76C>A | ENSP00000436122.2:p.Leu26Met | |
| ENST00000534382.6:c.76C>A | ENSP00000435260.2:p.Leu26Met | |
| ENST00000534510.6:c.76C>A | ENSP00000434217.1:p.Leu26Met | |
| ENST00000534636.6:c.76C>A | ENSP00000436159.2:p.Leu26Met | |
| ENST00000676502.1:c.76C>A | ENSP00000503902.1:p.Leu26Met | |
| ENST00000676691.1:c.76C>A | ENSP00000503608.1:p.Leu26Met | |
| ENST00000676755.1:c.76C>A | ENSP00000504226.1:p.Leu26Met | |
| ENST00000676825.1:c.76C>A | ENSP00000503006.1:p.Leu26Met | |
| ENST00000676843.1:c.76C>A | ENSP00000504659.1:p.Leu26Met | |
| ENST00000676952.1:c.76C>A | ENSP00000503909.1:p.Leu26Met | |
| ENST00000677047.1:c.76C>A | ENSP00000504127.1:p.Leu26Met | |
| ENST00000677082.1:c.76C>A | ENSP00000503652.1:p.Leu26Met | |
| ENST00000677283.1:c.76C>A | ENSP00000503222.1:p.Leu26Met | |
| ENST00000677366.1:c.76C>A | ENSP00000504161.1:p.Leu26Met | |
| ENST00000677415.1:c.76C>A | ENSP00000502963.1:p.Leu26Met | |
| ENST00000677418.1:c.76C>A | ENSP00000503174.1:p.Leu26Met | |
| ENST00000677544.1:c.76C>A | ENSP00000503078.1:p.Leu26Met | |
| ENST00000677650.1:c.76C>A | ENSP00000504797.1:p.Leu26Met | |
| ENST00000677671.1:c.76C>A | ENSP00000503578.1:p.Leu26Met | |
| ENST00000677819.1:c.76C>A | ENSP00000503435.1:p.Leu26Met | |
| ENST00000677865.1:c.76C>A | ENSP00000502946.1:p.Leu26Met | |
| ENST00000677873.1:c.76C>A | ENSP00000503052.1:p.Leu26Met | |
| ENST00000678067.1:c.76C>A | ENSP00000503330.1:p.Leu26Met | |
| ENST00000678092.1:c.76C>A | ENSP00000504638.1:p.Leu26Met | |
| ENST00000678145.1:c.76C>A | ENSP00000503674.1:p.Leu26Met | |
| ENST00000678242.1:c.76C>A | ENSP00000503280.1:p.Leu26Met | |
| ENST00000678357.1:c.76C>A | ENSP00000503513.1:p.Leu26Met | |
| ENST00000678598.1:c.76C>A | ENSP00000503734.1:p.Leu26Met | |
| ENST00000678615.1:c.76C>A | ENSP00000504336.1:p.Leu26Met | |
| ENST00000678629.1:c.-4-2399C>A | ENSP00000504808.1:n.-4-2399C>A | |
| ENST00000678929.1:c.76C>A | ENSP00000503487.1:p.Leu26Met | |
| ENST00000679051.1:c.76C>A | ENSP00000503858.1:p.Leu26Met | |
| ENST00000679121.1:c.76C>A | ENSP00000504223.1:p.Leu26Met | |
| ENST00000679128.1:c.76C>A | ENSP00000504480.1:p.Leu26Met | |
| ENST00000679140.1:c.76C>A | ENSP00000503300.1:p.Leu26Met | |
| ENST00000679214.1:c.76C>A | ENSP00000503892.1:p.Leu26Met | |
| ENST00000345125.7:c.76C>A | ENSP00000342070.3:p.Leu26Met | |
| ENST00000353047.10:c.76C>A | ENSP00000345672.5:p.Leu26Met | |
| ENST00000453527.6:c.76C>A | ENSP00000409917.2:p.Leu26Met | |
| ENST00000505496.6:c.76C>A | ENSP00000435650.1:p.Leu26Met | |
| ENST00000524500.5:c.76C>A | ENSP00000436074.1:p.Leu26Met | |
| ENST00000524654.1:c.76C>A | ENSP00000432077.1:p.Leu26Met | |
| ENST00000525076.5:n.159C>A | ||
| ENST00000525315.5:n.84C>A | ||
| ENST00000526195.5:c.76C>A | ENSP00000436627.1:p.Leu26Met | |
| ENST00000526645.5:c.76C>A | ENSP00000431518.1:p.Leu26Met | |
| ENST00000527215.6:c.76C>A | ENSP00000433379.2:p.Leu26Met | |
| ENST00000527243.5:c.76C>A | ENSP00000434725.1:p.Leu26Met | |
| ENST00000528965.1:c.76C>A | ENSP00000433929.1:p.Leu26Met | |
| ENST00000530296.5:c.76C>A | ENSP00000435074.1:p.Leu26Met | |
| ENST00000530640.6:c.76C>A | ENSP00000435105.1:p.Leu26Met | |
| ENST00000531089.5:c.76C>A | ENSP00000433215.1:p.Leu26Met | |
| ENST00000531502.5:c.76C>A | ENSP00000435886.1:p.Leu26Met | |
| ENST00000531551.5:c.76C>A | ENSP00000436456.1:p.Leu26Met | |
| ENST00000532370.1:n.441C>A | ||
| ENST00000532656.6:c.76C>A | ENSP00000431143.1:p.Leu26Met | |
| ENST00000533455.5:c.76C>A | ENSP00000432244.1:p.Leu26Met | |
| ENST00000533572.5:c.76C>A | ENSP00000433995.1:p.Leu26Met | |
| ENST00000534149.5:c.76C>A | ENSP00000436122.1:p.Leu26Met | |
| ENST00000534382.5:c.76C>A | ENSP00000435260.1:p.Leu26Met | |
| ENST00000534510.5:c.76C>A | ENSP00000434217.1:p.Leu26Met | |
| ENST00000534636.5:c.76C>A | ENSP00000436159.1:p.Leu26Met | |
| NM_001908.3:c.76C>A | NP_001899.1:p.Leu26Met | |
| NM_147780.2:c.76C>A | NP_680090.1:p.Leu26Met | |
| NM_147781.2:c.76C>A | NP_680091.1:p.Leu26Met | |
| NM_147782.2:c.76C>A | NP_680092.1:p.Leu26Met | |
| NM_147783.2:c.76C>A | NP_680093.1:p.Leu26Met | |
| XM_006716244.1:c.76C>A | XP_006716307.1:p.Leu26Met | |
| XM_006716245.1:c.76C>A | XP_006716308.1:p.Leu26Met | |
| XM_011543812.1:c.76C>A | XP_011542114.1:p.Leu26Met | |
| NM_001317237.1:c.-178C>A | NP_001304166.1:n.-178C>A | |
| NM_001908.4:c.76C>A | NP_001899.1:p.Leu26Met | |
| NM_147780.3:c.76C>A | NP_680090.1:p.Leu26Met | |
| NM_147781.3:c.76C>A | NP_680091.1:p.Leu26Met | |
| NM_147782.3:c.76C>A | NP_680092.1:p.Leu26Met | |
| NM_147783.3:c.76C>A | NP_680093.1:p.Leu26Met | |
| XM_006716244.3:c.76C>A | XP_006716307.1:p.Leu26Met | |
| XM_006716245.3:c.76C>A | XP_006716308.1:p.Leu26Met | |
| XM_011543812.3:c.76C>A | XP_011542114.1:p.Leu26Met | |
| XM_017013097.2:c.76C>A | XP_016868586.1:p.Leu26Met | |
| XM_017013099.2:c.76C>A | XP_016868588.1:p.Leu26Met | |
| XM_017013100.2:c.76C>A | XP_016868589.1:p.Leu26Met | |
| XM_017013101.2:c.30C>A | XP_016868590.1:p.Pro10= | |
| XM_024447071.1:c.76C>A | XP_024302839.1:p.Leu26Met | |
| NM_001908.5:c.76C>A MANE Select | NP_001899.1:p.Leu26Met | |
| NM_001317237.2:c.-178C>A | NP_001304166.1:n.-178C>A | |
| NM_147780.4:c.76C>A | NP_680090.1:p.Leu26Met | |
| NM_147781.4:c.76C>A | NP_680091.1:p.Leu26Met | |
| NM_147782.4:c.76C>A | NP_680092.1:p.Leu26Met | |
| NM_147783.4:c.76C>A | NP_680093.1:p.Leu26Met | |
| NM_001384714.1:c.76C>A | NP_001371643.1:p.Leu26Met | |
| NM_001384723.1:c.76C>A | NP_001371652.1:p.Leu26Met | |
| NM_001384724.1:c.76C>A | NP_001371653.1:p.Leu26Met | |
| NM_001384725.1:c.76C>A | NP_001371654.1:p.Leu26Met | |
| NM_001384726.1:c.76C>A | NP_001371655.1:p.Leu26Met | |
| NM_001384727.1:c.76C>A | NP_001371656.1:p.Leu26Met | |
| NM_001384728.1:c.76C>A | NP_001371657.1:p.Leu26Met |