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:
rs2129469012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811643G>C , CM000669.2:g.148811643G>C | GRCh38 |
| NC_000007.13:g.148508735G>C , CM000669.1:g.148508735G>C | GRCh37 |
| NC_000007.12:g.148139668G>C | NCBI36 |
| NG_032043.1:g.77707C>G , LRG_531:g.77707C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3829C>G | ||
| ENST00000682317.1:c.*991C>G | ENSP00000508286.1:n.*991C>G | |
| ENST00000683292.1:c.*825C>G | ENSP00000507503.1:n.*825C>G | |
| ENST00000683293.1:n.3648C>G | ||
| ENST00000683744.1:c.*991C>G | ENSP00000506949.1:n.*991C>G | |
| ENST00000684300.1:c.*991C>G | ENSP00000508407.1:n.*991C>G | |
| ENST00000684400.1:n.2820C>G | ||
| ENST00000684436.1:n.2245C>G | ||
| ENST00000684510.1:n.2307C>G | ||
| ENST00000320356.7:c.1929C>G MANE Select | ENSP00000320147.2:p.Ile643Met | |
| ENST00000320356.6:c.1929C>G | ENSP00000320147.2:p.Ile643Met | |
| ENST00000350995.6:c.1797C>G | ENSP00000223193.2:p.Ile599Met | |
| ENST00000460911.5:c.1914C>G | ENSP00000419711.1:p.Ile638Met | |
| ENST00000469631.1:n.181C>G | ||
| ENST00000476773.5:c.1761C>G | ENSP00000419050.1:p.Ile587Met | |
| ENST00000478654.5:c.1761C>G | ENSP00000417062.1:p.Ile587Met | |
| ENST00000483967.5:c.1887C>G | ENSP00000419856.1:p.Ile629Met | |
| ENST00000492143.5:c.*1919C>G | ENSP00000417377.1:n.*1919C>G | |
| NM_001203247.1:c.1914C>G | NP_001190176.1:p.Ile638Met | |
| NM_001203248.1:c.1887C>G | NP_001190177.1:p.Ile629Met | |
| NM_001203249.1:c.1761C>G | NP_001190178.1:p.Ile587Met | |
| NM_004456.4:c.1929C>G , LRG_531t1:c.1929C>G | NP_004447.2:p.Ile643Met | |
| NM_152998.2:c.1797C>G | NP_694543.1:p.Ile599Met | |
| XM_005249962.3:c.1938C>G | XP_005250019.1:p.Ile646Met | |
| XM_005249963.3:c.1911C>G | XP_005250020.1:p.Ile637Met | |
| XM_005249964.3:c.1785C>G | XP_005250021.1:p.Ile595Met | |
| XM_011515883.1:c.1953C>G | XP_011514185.1:p.Ile651Met | |
| XM_011515884.1:c.1929C>G | XP_011514186.1:p.Ile643Met | |
| XM_011515885.1:c.1926C>G | XP_011514187.1:p.Ile642Met | |
| XM_011515886.1:c.1905C>G | XP_011514188.1:p.Ile635Met | |
| XM_011515887.1:c.1902C>G | XP_011514189.1:p.Ile634Met | |
| XM_011515888.1:c.1902C>G | XP_011514190.1:p.Ile634Met | |
| XM_011515889.1:c.1863C>G | XP_011514191.1:p.Ile621Met | |
| XM_011515890.1:c.1836C>G | XP_011514192.1:p.Ile612Met | |
| XM_011515891.1:c.1830C>G | XP_011514193.1:p.Ile610Met | |
| XM_011515892.1:c.1827C>G | XP_011514194.1:p.Ile609Met | |
| XM_011515893.1:c.1821C>G | XP_011514195.1:p.Ile607Met | |
| XM_011515894.1:c.1812C>G | XP_011514196.1:p.Ile604Met | |
| XM_011515895.1:c.1809C>G | XP_011514197.1:p.Ile603Met | |
| XM_011515896.1:c.1695C>G | XP_011514198.1:p.Ile565Met | |
| XM_011515897.1:c.1602C>G | XP_011514199.1:p.Ile534Met | |
| XM_011515898.1:c.1602C>G | XP_011514200.1:p.Ile534Met | |
| XR_928101.1:n.515+6558G>C | ||
| XR_928102.1:n.722+6558G>C | ||
| XM_005249962.4:c.1938C>G | XP_005250019.1:p.Ile646Met | |
| XM_005249963.4:c.1911C>G | XP_005250020.1:p.Ile637Met | |
| XM_005249964.4:c.1785C>G | XP_005250021.1:p.Ile595Met | |
| XM_011515883.2:c.1953C>G | XP_011514185.1:p.Ile651Met | |
| XM_011515884.2:c.1929C>G | XP_011514186.1:p.Ile643Met | |
| XM_011515885.2:c.1926C>G | XP_011514187.1:p.Ile642Met | |
| XM_011515886.2:c.1905C>G | XP_011514188.1:p.Ile635Met | |
| XM_011515887.3:c.1902C>G | XP_011514189.1:p.Ile634Met | |
| XM_011515888.2:c.1902C>G | XP_011514190.1:p.Ile634Met | |
| XM_011515889.2:c.1863C>G | XP_011514191.1:p.Ile621Met | |
| XM_011515890.2:c.1836C>G | XP_011514192.1:p.Ile612Met | |
| XM_011515891.3:c.1830C>G | XP_011514193.1:p.Ile610Met | |
| XM_011515892.2:c.1827C>G | XP_011514194.1:p.Ile609Met | |
| XM_011515893.2:c.1821C>G | XP_011514195.1:p.Ile607Met | |
| XM_011515894.2:c.1812C>G | XP_011514196.1:p.Ile604Met | |
| XM_011515895.2:c.1809C>G | XP_011514197.1:p.Ile603Met | |
| XM_011515896.2:c.1695C>G | XP_011514198.1:p.Ile565Met | |
| XM_011515897.2:c.1602C>G | XP_011514199.1:p.Ile534Met | |
| XM_011515898.2:c.1602C>G | XP_011514200.1:p.Ile534Met | |
| XM_017011817.2:c.1953C>G | XP_016867306.1:p.Ile651Met | |
| XM_017011818.1:c.1890C>G | XP_016867307.1:p.Ile630Met | |
| XM_017011819.1:c.1812C>G | XP_016867308.1:p.Ile604Met | |
| XM_017011820.2:c.1785C>G | XP_016867309.1:p.Ile595Met | |
| XM_017011821.1:c.1587C>G | XP_016867310.1:p.Ile529Met | |
| XM_024446680.1:c.1815C>G | XP_024302448.1:p.Ile605Met | |
| XR_001744581.1:n.4303C>G | ||
| XR_002956413.1:n.4959C>G | ||
| XR_002956414.1:n.5419C>G | ||
| NM_001203247.2:c.1914C>G | NP_001190176.1:p.Ile638Met | |
| NM_001203248.2:c.1887C>G | NP_001190177.1:p.Ile629Met | |
| NM_001203249.2:c.1761C>G | NP_001190178.1:p.Ile587Met | |
| NM_004456.5:c.1929C>G MANE Select | NP_004447.2:p.Ile643Met | |
| NM_152998.3:c.1797C>G | NP_694543.1:p.Ile599Met |