Linked Data
dbSNP Id:
rs747374301
ExAC:
6:157511254 G / A
gnomAD v2:
6-157511254-G-A
gnomAD v3:
6-157190120-G-A
gnomAD v4:
6-157190120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157190120G>A , CM000668.2:g.157190120G>A | GRCh38 |
| NC_000006.11:g.157511254G>A , CM000668.1:g.157511254G>A | GRCh37 |
| NC_000006.10:g.157552946G>A | NCBI36 |
| NG_032093.1:g.417191G>A | |
| NG_032093.2:g.417191G>A | |
| NG_066624.1:g.419095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3982G>A | ENSP00000055163.8:p.Ala1328Thr | |
| ENST00000414678.8:c.4051G>A | ENSP00000412835.3:p.Ala1351Thr | |
| ENST00000637015.2:c.4270G>A | ENSP00000489729.2:p.Ala1424Thr | |
| ENST00000346085.10:c.4021G>A | ENSP00000344546.5:p.Ala1341Thr | |
| ENST00000350026.10:c.3733G>A | ENSP00000055163.7:p.Ala1245Thr | |
| ENST00000414678.7:c.2299G>A | ENSP00000412835.2:p.Ala767Thr | |
| ENST00000635849.1:c.1462G>A | ENSP00000490948.1:p.Ala488Thr | |
| ENST00000635957.1:c.1093G>A | ENSP00000490385.1:p.Ala365Thr | |
| ENST00000636930.2:c.4141G>A MANE Select | ENSP00000490491.2:p.Ala1381Thr | |
| ENST00000636940.1:n.2138G>A | ||
| ENST00000637015.1:c.1509G>A | ||
| ENST00000637568.1:c.1423G>A | ||
| ENST00000637741.1:n.807G>A | ||
| ENST00000637810.1:c.1483G>A | ENSP00000489636.1:p.Ala495Thr | |
| ENST00000637904.1:c.1642G>A | ENSP00000490550.1:p.Ala548Thr | |
| ENST00000647938.1:c.3772G>A | ENSP00000498155.1:p.Ala1258Thr | |
| ENST00000346085.9:c.3772G>A | ENSP00000344546.4:p.Ala1258Thr | |
| ENST00000350026.9:c.3733G>A | ENSP00000055163.7:p.Ala1245Thr | |
| ENST00000414678.6:c.2299G>A | ENSP00000412835.2:p.Ala767Thr | |
| NM_017519.2:c.3733G>A | NP_059989.2:p.Ala1245Thr | |
| NM_020732.3:c.3772G>A | NP_065783.3:p.Ala1258Thr | |
| XM_005267069.3:c.3892G>A | XP_005267126.2:p.Ala1298Thr | |
| XM_011535984.1:c.2971G>A | XP_011534286.1:p.Ala991Thr | |
| XM_011535985.1:c.2791G>A | XP_011534287.1:p.Ala931Thr | |
| XM_011535986.1:c.2551G>A | XP_011534288.1:p.Ala851Thr | |
| XM_011535987.1:c.2170G>A | XP_011534289.1:p.Ala724Thr | |
| XM_011535988.1:c.1033G>A | XP_011534290.1:p.Ala345Thr | |
| NM_001346813.1:c.3892G>A | NP_001333742.1:p.Ala1298Thr | |
| NM_001363725.1:c.1642G>A | NP_001350654.1:p.Ala548Thr | |
| XM_011535984.2:c.4102G>A | XP_011534286.2:p.Ala1368Thr | |
| XM_011535988.3:c.1033G>A | XP_011534290.1:p.Ala345Thr | |
| XM_017011103.2:c.4003G>A | XP_016866592.1:p.Ala1335Thr | |
| XM_017011104.1:c.3973G>A | XP_016866593.1:p.Ala1325Thr | |
| XM_017011105.2:c.3943G>A | XP_016866594.1:p.Ala1315Thr | |
| XM_017011106.2:c.3814G>A | XP_016866595.1:p.Ala1272Thr | |
| XM_017011107.2:c.3793G>A | XP_016866596.1:p.Ala1265Thr | |
| XR_002956289.1:n.4185G>A | ||
| NM_001363725.2:c.1642G>A | NP_001350654.1:p.Ala548Thr | |
| NM_001371656.1:c.4021G>A | NP_001358585.1:p.Ala1341Thr | |
| NM_001374820.1:c.4021G>A | NP_001361749.1:p.Ala1341Thr | |
| NM_001374828.1:c.4141G>A MANE Select | NP_001361757.1:p.Ala1381Thr | |
| NM_017519.3:c.3982G>A | NP_059989.3:p.Ala1328Thr |