Linked Data
dbSNP Id:
rs746841085
ExAC:
16:16259542 C / T
gnomAD v2:
16-16259542-C-T
gnomAD v4:
16-16165685-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165685C>T , CM000678.2:g.16165685C>T | GRCh38 |
| NC_000016.9:g.16259542C>T , CM000678.1:g.16259542C>T | GRCh37 |
| NC_000016.8:g.16167043C>T | NCBI36 |
| NG_007558.2:g.62787G>A | |
| NG_007558.3:g.62933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3244G>A | ENSP00000483331.2:p.Val1082Met | |
| ENST00000205557.12:c.3244G>A MANE Select | ENSP00000205557.7:p.Val1082Met | |
| ENST00000640696.1:c.259G>A | ENSP00000492197.1:p.Val87Met | |
| ENST00000205557.11:c.3244G>A | ENSP00000205557.7:p.Val1082Met | |
| ENST00000456970.6:c.3069G>A | ENSP00000405002.2:n.3069G>A | |
| ENST00000622290.4:c.*453G>A | ENSP00000483331.1:n.*453G>A | |
| NM_001171.5:c.3244G>A | NP_001162.4:p.Val1082Met | |
| XM_011522479.1:c.3211G>A | XP_011520781.1:p.Val1071Met | |
| XM_011522480.1:c.2902G>A | XP_011520782.1:p.Val968Met | |
| XM_011522481.1:c.2902G>A | XP_011520783.1:p.Val968Met | |
| XR_932836.1:n.3479G>A | ||
| XR_932837.1:n.3480G>A | ||
| XR_932838.1:n.3480G>A | ||
| NM_001351800.1:c.2902G>A | NP_001338729.1:p.Val968Met | |
| NR_147784.1:n.3106G>A | ||
| XM_011522479.2:c.3211G>A | XP_011520781.1:p.Val1071Met | |
| XM_011522481.3:c.2902G>A | XP_011520783.1:p.Val968Met | |
| XM_017023212.1:c.3076G>A | XP_016878701.1:p.Val1026Met | |
| XM_017023214.1:c.3244G>A | XP_016878703.1:p.Val1082Met | |
| XM_024450261.1:c.3280G>A | XP_024306029.1:p.Val1094Met | |
| XR_932836.2:n.3425G>A | ||
| XR_932837.3:n.3425G>A | ||
| XR_932838.3:n.3425G>A | ||
| NM_001171.6:c.3244G>A MANE Select | NP_001162.5:p.Val1082Met |