Linked Data
ClinVar Variation Id:
433310
ClinVar RCV Id:
RCV000499270
dbSNP Id:
rs63750987
PubMed:
PMID:11536079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16163137G>C , CM000678.2:g.16163137G>C | GRCh38 |
| NC_000016.9:g.16256994G>C , CM000678.1:g.16256994G>C | GRCh37 |
| NC_000016.8:g.16164495G>C | NCBI36 |
| NG_007558.2:g.65335C>G | |
| NG_007558.3:g.65481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3362C>G | ENSP00000483331.2:p.Ser1121Trp | |
| ENST00000205557.12:c.3362C>G MANE Select | ENSP00000205557.7:p.Ser1121Trp | |
| ENST00000640696.1:c.321-1573C>G | ENSP00000492197.1:n.321-1573C>G | |
| ENST00000205557.11:c.3362C>G | ENSP00000205557.7:p.Ser1121Trp | |
| ENST00000456970.6:c.3132-1573C>G | ENSP00000405002.2:n.3132-1573C>G | |
| ENST00000622290.4:c.*571C>G | ENSP00000483331.1:n.*571C>G | |
| NM_001171.5:c.3362C>G | NP_001162.4:p.Ser1121Trp | |
| XM_011522479.1:c.3329C>G | XP_011520781.1:p.Ser1110Trp | |
| XM_011522480.1:c.3020C>G | XP_011520782.1:p.Ser1007Trp | |
| XM_011522481.1:c.3020C>G | XP_011520783.1:p.Ser1007Trp | |
| XR_932836.1:n.3597C>G | ||
| XR_932837.1:n.3543-1573C>G | ||
| XR_932838.1:n.3543-1573C>G | ||
| XR_933133.1:n.407+294G>C | ||
| XR_933134.1:n.754+294G>C | ||
| NM_001351800.1:c.3020C>G | NP_001338729.1:p.Ser1007Trp | |
| NR_147784.1:n.3169-1573C>G | ||
| XM_011522479.2:c.3329C>G | XP_011520781.1:p.Ser1110Trp | |
| XM_011522481.3:c.3020C>G | XP_011520783.1:p.Ser1007Trp | |
| XM_017023212.1:c.3194C>G | XP_016878701.1:p.Ser1065Trp | |
| XM_017023214.1:c.3307-1573C>G | XP_016878703.1:n.3307-1573C>G | |
| XM_024450261.1:c.3398C>G | XP_024306029.1:p.Ser1133Trp | |
| XR_932836.2:n.3543C>G | ||
| XR_932837.3:n.3488-1573C>G | ||
| XR_932838.3:n.3488-1573C>G | ||
| NM_001171.6:c.3362C>G MANE Select | NP_001162.5:p.Ser1121Trp |