Linked Data
dbSNP Id:
rs553008971
ExAC:
16:16263651 G / C
gnomAD v2:
16-16263651-G-C
gnomAD v4:
16-16169794-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169794G>C , CM000678.2:g.16169794G>C | GRCh38 |
| NC_000016.9:g.16263651G>C , CM000678.1:g.16263651G>C | GRCh37 |
| NC_000016.8:g.16171152G>C | NCBI36 |
| NG_007558.2:g.58678C>G | |
| NG_007558.3:g.58824C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2847C>G | ENSP00000483331.2:p.Tyr949Ter | |
| ENST00000205557.12:c.2847C>G MANE Select | ENSP00000205557.7:p.Tyr949Ter | |
| ENST00000205557.11:c.2847C>G | ENSP00000205557.7:p.Tyr949Ter | |
| ENST00000456970.6:c.2672C>G | ENSP00000405002.2:n.2672C>G | |
| ENST00000622290.4:c.*56C>G | ENSP00000483331.1:n.*56C>G | |
| NM_001171.5:c.2847C>G | NP_001162.4:p.Tyr949Ter | |
| XM_011522479.1:c.2814C>G | XP_011520781.1:p.Tyr938Ter | |
| XM_011522480.1:c.2505C>G | XP_011520782.1:p.Tyr835Ter | |
| XM_011522481.1:c.2505C>G | XP_011520783.1:p.Tyr835Ter | |
| XR_932836.1:n.3082C>G | ||
| XR_932837.1:n.3083C>G | ||
| XR_932838.1:n.3083C>G | ||
| NM_001351800.1:c.2505C>G | NP_001338729.1:p.Tyr835Ter | |
| NR_147784.1:n.2709C>G | ||
| XM_011522479.2:c.2814C>G | XP_011520781.1:p.Tyr938Ter | |
| XM_011522481.3:c.2505C>G | XP_011520783.1:p.Tyr835Ter | |
| XM_017023212.1:c.2679C>G | XP_016878701.1:p.Tyr893Ter | |
| XM_017023214.1:c.2847C>G | XP_016878703.1:p.Tyr949Ter | |
| XM_024450261.1:c.2883C>G | XP_024306029.1:p.Tyr961Ter | |
| XR_932836.2:n.3028C>G | ||
| XR_932837.3:n.3028C>G | ||
| XR_932838.3:n.3028C>G | ||
| NM_001171.6:c.2847C>G MANE Select | NP_001162.5:p.Tyr949Ter |