Linked Data
ClinVar Variation Id:
433306
ClinVar RCV Id:
RCV000499346
dbSNP Id:
rs60975032
gnomAD v2:
16-16259579-G-T
gnomAD v4:
16-16165722-G-T
PubMed:
PMID:18253096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165722G>T , CM000678.2:g.16165722G>T | GRCh38 |
| NC_000016.9:g.16259579G>T , CM000678.1:g.16259579G>T | GRCh37 |
| NC_000016.8:g.16167080G>T | NCBI36 |
| NG_007558.2:g.62750C>A | |
| NG_007558.3:g.62896C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3207C>A | ENSP00000483331.2:p.Tyr1069Ter | |
| ENST00000205557.12:c.3207C>A MANE Select | ENSP00000205557.7:p.Tyr1069Ter | |
| ENST00000640696.1:c.222C>A | ENSP00000492197.1:p.Tyr74Ter | |
| ENST00000205557.11:c.3207C>A | ENSP00000205557.7:p.Tyr1069Ter | |
| ENST00000456970.6:c.3032C>A | ENSP00000405002.2:n.3032C>A | |
| ENST00000622290.4:c.*416C>A | ENSP00000483331.1:n.*416C>A | |
| NM_001171.5:c.3207C>A | NP_001162.4:p.Tyr1069Ter | |
| XM_011522479.1:c.3174C>A | XP_011520781.1:p.Tyr1058Ter | |
| XM_011522480.1:c.2865C>A | XP_011520782.1:p.Tyr955Ter | |
| XM_011522481.1:c.2865C>A | XP_011520783.1:p.Tyr955Ter | |
| XR_932836.1:n.3442C>A | ||
| XR_932837.1:n.3443C>A | ||
| XR_932838.1:n.3443C>A | ||
| NM_001351800.1:c.2865C>A | NP_001338729.1:p.Tyr955Ter | |
| NR_147784.1:n.3069C>A | ||
| XM_011522479.2:c.3174C>A | XP_011520781.1:p.Tyr1058Ter | |
| XM_011522481.3:c.2865C>A | XP_011520783.1:p.Tyr955Ter | |
| XM_017023212.1:c.3039C>A | XP_016878701.1:p.Tyr1013Ter | |
| XM_017023214.1:c.3207C>A | XP_016878703.1:p.Tyr1069Ter | |
| XM_024450261.1:c.3243C>A | XP_024306029.1:p.Tyr1081Ter | |
| XR_932836.2:n.3388C>A | ||
| XR_932837.3:n.3388C>A | ||
| XR_932838.3:n.3388C>A | ||
| NM_001171.6:c.3207C>A MANE Select | NP_001162.5:p.Tyr1069Ter |