Linked Data
ClinVar Variation Id:
493451
dbSNP Id:
rs565318645
ExAC:
7:44259684 C / T
gnomAD v2:
7-44259684-C-T
gnomAD v3:
7-44220085-C-T
gnomAD v4:
7-44220085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44220085C>T , CM000669.2:g.44220085C>T | GRCh38 |
| NC_000007.13:g.44259684C>T , CM000669.1:g.44259684C>T | GRCh37 |
| NC_000007.12:g.44226209C>T | NCBI36 |
| NG_029407.1:g.110547G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470984.6:c.1219G>A | ENSP00000514879.1:p.Ala407Thr | |
| ENST00000484972.6:n.1679G>A | ||
| ENST00000700233.1:c.1528G>A | ENSP00000514871.1:p.Ala510Thr | |
| ENST00000700234.1:c.589G>A | ||
| ENST00000700235.1:c.1663G>A | ENSP00000514874.1:p.Ala555Thr | |
| ENST00000700236.1:c.979G>A | ||
| ENST00000700237.1:c.1219G>A | ENSP00000514876.1:p.Ala407Thr | |
| ENST00000700238.1:c.1147G>A | ENSP00000514877.1:p.Ala383Thr | |
| ENST00000700239.1:c.1475G>A | ||
| ENST00000700240.1:c.1174G>A | ENSP00000514880.1:p.Ala392Thr | |
| ENST00000700241.1:c.1608G>A | ||
| ENST00000700283.1:c.1488G>A | ||
| ENST00000700284.1:c.*1835G>A | ENSP00000514917.1:n.*1835G>A | |
| ENST00000700285.1:c.1606G>A | ENSP00000514918.1:p.Ala536Thr | |
| ENST00000700286.1:n.2107G>A | ||
| ENST00000700287.1:c.1619G>A | ||
| ENST00000700290.1:c.1144G>A | ENSP00000514921.1:p.Ala382Thr | |
| ENST00000700291.1:c.1403G>A | ENSP00000514922.1:n.1403G>A | |
| ENST00000395749.7:c.1978G>A MANE Select | ENSP00000379098.2:p.Ala660Thr | |
| ENST00000258682.10:c.1531G>A | ENSP00000258682.6:p.Ala511Thr | |
| ENST00000346990.8:c.1327G>A | ENSP00000326518.5:p.Ala443Thr | |
| ENST00000347193.8:c.1456G>A | ENSP00000326544.6:p.Ala486Thr | |
| ENST00000350811.7:c.1606G>A | ENSP00000326375.5:p.Ala536Thr | |
| ENST00000353185.7:c.*399G>A | ENSP00000326600.4:n.*399G>A | |
| ENST00000353625.8:c.1417G>A | ENSP00000326427.5:p.Ala473Thr | |
| ENST00000358707.7:c.1489G>A | ENSP00000351542.3:p.Ala497Thr | |
| ENST00000395747.6:c.1534G>A | ENSP00000379096.2:p.Ala512Thr | |
| ENST00000395749.6:c.1978G>A | ENSP00000379098.2:p.Ala660Thr | |
| ENST00000425809.5:c.532G>A | ENSP00000410445.1:p.Ala178Thr | |
| ENST00000440254.6:c.1606G>A | ENSP00000397937.2:p.Ala536Thr | |
| ENST00000457475.5:c.1534G>A | ENSP00000390292.1:p.Ala512Thr | |
| ENST00000466584.5:n.433G>A | ||
| ENST00000489429.5:n.2062G>A | ||
| ENST00000497584.5:n.1857G>A | ||
| ENST00000523845.5:c.*1261G>A | ENSP00000428912.1:n.*1261G>A | |
| NM_001220.4:c.1978G>A | NP_001211.3:p.Ala660Thr | |
| NM_001293170.1:c.1606G>A | NP_001280099.1:p.Ala536Thr | |
| NM_172078.2:c.1606G>A | NP_742075.1:p.Ala536Thr | |
| NM_172079.2:c.1534G>A | NP_742076.1:p.Ala512Thr | |
| NM_172080.2:c.1531G>A | NP_742077.1:p.Ala511Thr | |
| NM_172081.2:c.1489G>A | NP_742078.1:p.Ala497Thr | |
| NM_172082.2:c.1456G>A | NP_742079.1:p.Ala486Thr | |
| NM_172083.2:c.1417G>A | NP_742080.1:p.Ala473Thr | |
| NM_172084.2:c.1327G>A | NP_742081.1:p.Ala443Thr | |
| XM_005249862.3:c.1561G>A | XP_005249919.1:p.Ala521Thr | |
| XM_005249864.3:c.1462G>A | XP_005249921.1:p.Ala488Thr | |
| XM_006715781.2:c.1858G>A | XP_006715844.1:p.Ala620Thr | |
| XM_006715784.2:c.1534G>A | XP_006715847.1:p.Ala512Thr | |
| XM_011515547.1:c.2107G>A | XP_011513849.1:p.Ala703Thr | |
| XM_011515548.1:c.2107G>A | XP_011513850.1:p.Ala703Thr | |
| XM_011515549.1:c.2062G>A | XP_011513851.1:p.Ala688Thr | |
| XM_011515550.1:c.2035G>A | XP_011513852.1:p.Ala679Thr | |
| XM_011515551.1:c.2035G>A | XP_011513853.1:p.Ala679Thr | |
| XM_011515552.1:c.2032G>A | XP_011513854.1:p.Ala678Thr | |
| XM_011515553.1:c.1993G>A | XP_011513855.1:p.Ala665Thr | |
| XM_011515554.1:c.1987G>A | XP_011513856.1:p.Ala663Thr | |
| XM_011515555.1:c.1978G>A | XP_011513857.1:p.Ala660Thr | |
| XM_011515556.1:c.1963G>A | XP_011513858.1:p.Ala655Thr | |
| XM_011515557.1:c.1960G>A | XP_011513859.1:p.Ala654Thr | |
| XM_011515559.1:c.1720G>A | XP_011513861.1:p.Ala574Thr | |
| XM_011515560.1:c.1720G>A | XP_011513862.1:p.Ala574Thr | |
| XM_011515559.2:c.1720G>A | XP_011513861.1:p.Ala574Thr | |
| XM_017012660.1:c.1990G>A | XP_016868149.1:p.Ala664Thr | |
| XM_017012661.1:c.1948G>A | XP_016868150.1:p.Ala650Thr | |
| XM_017012662.1:c.1789G>A | XP_016868151.1:p.Ala597Thr | |
| XM_017012663.2:c.1648G>A | XP_016868152.1:p.Ala550Thr | |
| XM_017012664.1:c.1486G>A | XP_016868153.1:p.Ala496Thr | |
| XM_017012665.1:c.1459G>A | XP_016868154.1:p.Ala487Thr | |
| XM_017012666.2:c.1219G>A | XP_016868155.1:p.Ala407Thr | |
| XM_017012667.2:c.1174G>A | XP_016868156.1:p.Ala392Thr | |
| XM_017012668.2:c.1147G>A | XP_016868157.1:p.Ala383Thr | |
| XM_017012669.2:c.1147G>A | XP_016868158.1:p.Ala383Thr | |
| XM_017012670.2:c.1102G>A | XP_016868159.1:p.Ala368Thr | |
| XM_024446945.1:c.1864G>A | XP_024302713.1:p.Ala622Thr | |
| XM_024446946.1:c.1144G>A | XP_024302714.1:p.Ala382Thr | |
| NM_001220.5:c.1978G>A MANE Select | NP_001211.3:p.Ala660Thr | |
| NM_001293170.2:c.1606G>A | NP_001280099.1:p.Ala536Thr | |
| NM_172078.3:c.1606G>A | NP_742075.1:p.Ala536Thr | |
| NM_172080.3:c.1531G>A | NP_742077.1:p.Ala511Thr | |
| NM_172081.3:c.1489G>A | NP_742078.1:p.Ala497Thr | |
| NM_172082.3:c.1456G>A | NP_742079.1:p.Ala486Thr | |
| NM_172083.3:c.1417G>A | NP_742080.1:p.Ala473Thr | |
| NM_172084.3:c.1327G>A | NP_742081.1:p.Ala443Thr | |
| NM_172079.3:c.1534G>A | NP_742076.1:p.Ala512Thr |