Linked Data
ClinVar Variation Id:
433341
dbSNP Id:
rs63750235
ExAC:
16:16248772 C / T
gnomAD v4:
16-16154915-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154915C>T , CM000678.2:g.16154915C>T | GRCh38 |
| NC_000016.9:g.16248772C>T , CM000678.1:g.16248772C>T | GRCh37 |
| NC_000016.8:g.16156273C>T | NCBI36 |
| NG_007558.2:g.73557G>A | |
| NG_007558.3:g.73703G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.862G>A | ||
| ENST00000622290.5:c.*171G>A | ENSP00000483331.2:n.*171G>A | |
| ENST00000205557.12:c.3999G>A MANE Select | ENSP00000205557.7:p.Val1333= | |
| ENST00000640696.1:c.813G>A | ENSP00000492197.1:p.Val271= | |
| ENST00000205557.11:c.3999G>A | ENSP00000205557.7:p.Val1333= | |
| ENST00000456970.6:c.3624G>A | ENSP00000405002.2:n.3624G>A | |
| ENST00000576204.5:n.862G>A | ||
| ENST00000622290.4:c.*1208G>A | ENSP00000483331.1:n.*1208G>A | |
| NM_001171.5:c.3999G>A | NP_001162.4:p.Val1333= | |
| XM_011522479.1:c.3966G>A | XP_011520781.1:p.Val1322= | |
| XM_011522480.1:c.3657G>A | XP_011520782.1:p.Val1219= | |
| XM_011522481.1:c.3657G>A | XP_011520783.1:p.Val1219= | |
| XR_933134.1:n.539-4866C>T | ||
| NM_001351800.1:c.3657G>A | NP_001338729.1:p.Val1219= | |
| NR_147784.1:n.3661G>A | ||
| XM_011522479.2:c.3966G>A | XP_011520781.1:p.Val1322= | |
| XM_011522481.3:c.3657G>A | XP_011520783.1:p.Val1219= | |
| XM_017023212.1:c.3831G>A | XP_016878701.1:p.Val1277= | |
| XM_024450261.1:c.4035G>A | XP_024306029.1:p.Val1345= | |
| NM_001171.6:c.3999G>A MANE Select | NP_001162.5:p.Val1333= |