Linked Data
ClinVar Variation Id:
433509
ClinVar RCV Id:
RCV000499041
dbSNP Id:
rs1555510357
PubMed:
PMID:25264593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169730A>G , CM000678.2:g.16169730A>G | GRCh38 |
| NC_000016.9:g.16263587A>G , CM000678.1:g.16263587A>G | GRCh37 |
| NC_000016.8:g.16171088A>G | NCBI36 |
| NG_007558.2:g.58742T>C | |
| NG_007558.3:g.58888T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2911T>C | ENSP00000483331.2:p.Trp971Arg | |
| ENST00000205557.12:c.2911T>C MANE Select | ENSP00000205557.7:p.Trp971Arg | |
| ENST00000205557.11:c.2911T>C | ENSP00000205557.7:p.Trp971Arg | |
| ENST00000456970.6:c.2736T>C | ENSP00000405002.2:n.2736T>C | |
| ENST00000622290.4:c.*120T>C | ENSP00000483331.1:n.*120T>C | |
| NM_001171.5:c.2911T>C | NP_001162.4:p.Trp971Arg | |
| XM_011522479.1:c.2878T>C | XP_011520781.1:p.Trp960Arg | |
| XM_011522480.1:c.2569T>C | XP_011520782.1:p.Trp857Arg | |
| XM_011522481.1:c.2569T>C | XP_011520783.1:p.Trp857Arg | |
| XR_932836.1:n.3146T>C | ||
| XR_932837.1:n.3147T>C | ||
| XR_932838.1:n.3147T>C | ||
| NM_001351800.1:c.2569T>C | NP_001338729.1:p.Trp857Arg | |
| NR_147784.1:n.2773T>C | ||
| XM_011522479.2:c.2878T>C | XP_011520781.1:p.Trp960Arg | |
| XM_011522481.3:c.2569T>C | XP_011520783.1:p.Trp857Arg | |
| XM_017023212.1:c.2743T>C | XP_016878701.1:p.Trp915Arg | |
| XM_017023214.1:c.2911T>C | XP_016878703.1:p.Trp971Arg | |
| XM_024450261.1:c.2947T>C | XP_024306029.1:p.Trp983Arg | |
| XR_932836.2:n.3092T>C | ||
| XR_932837.3:n.3092T>C | ||
| XR_932838.3:n.3092T>C | ||
| NM_001171.6:c.2911T>C MANE Select | NP_001162.5:p.Trp971Arg |