Linked Data
dbSNP Id:
rs755871957
ExAC:
1:120279784 C / T
gnomAD v2:
1-120279784-C-T
gnomAD v4:
1-119737161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737161C>T , CM000663.2:g.119737161C>T | GRCh38 |
| NC_000001.10:g.120279784C>T , CM000663.1:g.120279784C>T | GRCh37 |
| NC_000001.9:g.120081307C>T | NCBI36 |
| NG_009188.1:g.30366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.840C>T | ENSP00000358417.5:p.Ser280= | |
| ENST00000641023.2:c.840C>T MANE Select | ENSP00000493175.1:p.Ser280= | |
| ENST00000641074.1:c.840C>T | ENSP00000493446.1:p.Ser280= | |
| ENST00000641115.1:c.840C>T | ENSP00000493264.1:p.Ser280= | |
| ENST00000641213.1:c.*493C>T | ENSP00000493079.1:n.*493C>T | |
| ENST00000641314.1:n.825C>T | ||
| ENST00000641375.1:c.*676C>T | ENSP00000493089.1:n.*676C>T | |
| ENST00000641597.1:c.840C>T | ENSP00000493382.1:p.Ser280= | |
| ENST00000641756.1:c.*584C>T | ENSP00000493147.1:n.*584C>T | |
| ENST00000641811.1:c.596C>T | ||
| ENST00000641891.1:c.*666C>T | ENSP00000493288.1:n.*666C>T | |
| ENST00000641927.1:n.780C>T | ||
| ENST00000641947.1:c.840C>T | ENSP00000492994.1:p.Ser280= | |
| ENST00000642021.1:n.962C>T | ||
| ENST00000369407.3:c.738C>T | ENSP00000358415.3:p.Ser246= | |
| ENST00000369409.8:c.840C>T | ENSP00000358417.4:p.Ser280= | |
| NM_006623.3:c.840C>T | NP_006614.2:p.Ser280= | |
| XM_011541226.1:c.1062C>T | XP_011539528.1:p.Ser354= | |
| XM_011541227.1:c.984C>T | XP_011539529.1:p.Ser328= | |
| XM_011541228.1:c.951C>T | XP_011539530.1:p.Ser317= | |
| XM_011541229.1:c.777C>T | XP_011539531.1:p.Ser259= | |
| XM_011541230.1:c.555C>T | XP_011539532.1:p.Ser185= | |
| XM_011541231.1:c.546C>T | XP_011539533.1:p.Ser182= | |
| XM_011541226.2:c.1062C>T | XP_011539528.1:p.Ser354= | |
| XM_011541227.2:c.984C>T | XP_011539529.1:p.Ser328= | |
| XM_011541228.2:c.951C>T | XP_011539530.1:p.Ser317= | |
| XM_011541231.2:c.546C>T | XP_011539533.1:p.Ser182= | |
| XM_024446338.1:c.951C>T | XP_024302106.1:p.Ser317= | |
| NM_006623.4:c.840C>T MANE Select | NP_006614.2:p.Ser280= |