Linked Data
dbSNP Id:
rs771434033
gnomAD v2:
16-16248842-C-A
gnomAD v3:
16-16154985-C-A
gnomAD v4:
16-16154985-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154985C>A , CM000678.2:g.16154985C>A | GRCh38 |
| NC_000016.9:g.16248842C>A , CM000678.1:g.16248842C>A | GRCh37 |
| NC_000016.8:g.16156343C>A | NCBI36 |
| NG_007558.2:g.73487G>T | |
| NG_007558.3:g.73633G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.792G>T | ||
| ENST00000622290.5:c.*101G>T | ENSP00000483331.2:n.*101G>T | |
| ENST00000205557.12:c.3929G>T MANE Select | ENSP00000205557.7:p.Ser1310Ile | |
| ENST00000640696.1:c.743G>T | ENSP00000492197.1:p.Ser248Ile | |
| ENST00000205557.11:c.3929G>T | ENSP00000205557.7:p.Ser1310Ile | |
| ENST00000456970.6:c.3554G>T | ENSP00000405002.2:n.3554G>T | |
| ENST00000576204.5:n.792G>T | ||
| ENST00000622290.4:c.*1138G>T | ENSP00000483331.1:n.*1138G>T | |
| NM_001171.5:c.3929G>T | NP_001162.4:p.Ser1310Ile | |
| XM_011522479.1:c.3896G>T | XP_011520781.1:p.Ser1299Ile | |
| XM_011522480.1:c.3587G>T | XP_011520782.1:p.Ser1196Ile | |
| XM_011522481.1:c.3587G>T | XP_011520783.1:p.Ser1196Ile | |
| XR_932836.1:n.4227G>T | ||
| XR_932837.1:n.3965G>T | ||
| XR_932838.1:n.4028G>T | ||
| XR_933134.1:n.539-4796C>A | ||
| NM_001351800.1:c.3587G>T | NP_001338729.1:p.Ser1196Ile | |
| NR_147784.1:n.3591G>T | ||
| XM_011522479.2:c.3896G>T | XP_011520781.1:p.Ser1299Ile | |
| XM_011522481.3:c.3587G>T | XP_011520783.1:p.Ser1196Ile | |
| XM_017023212.1:c.3761G>T | XP_016878701.1:p.Ser1254Ile | |
| XM_024450261.1:c.3965G>T | XP_024306029.1:p.Ser1322Ile | |
| XR_932836.2:n.4173G>T | ||
| XR_932837.3:n.3910G>T | ||
| XR_932838.3:n.3973G>T | ||
| NM_001171.6:c.3929G>T MANE Select | NP_001162.5:p.Ser1310Ile |