Linked Data
ClinVar Variation Id:
10495
ClinVar RCV Id:
RCV000011241
dbSNP Id:
rs199422230
PubMed:
PMID:1303211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482974C>T , CM000685.2:g.149482974C>T | GRCh38 |
| NC_000023.10:g.148564505C>T , CM000685.1:g.148564505C>T | GRCh37 |
| NC_000023.9:g.148372410C>T | NCBI36 |
| NG_011900.3:g.27361G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.1425G>A MANE Select | ENSP00000339801.6:p.Trp475Ter | |
| ENST00000651111.1:c.792G>A | ENSP00000498395.1:p.Trp264Ter | |
| ENST00000340855.10:c.1425G>A | ENSP00000339801.6:p.Trp475Ter | |
| ENST00000422081.6:c.792G>A | ENSP00000477056.1:p.Trp264Ter | |
| NM_000202.6:c.1425G>A | NP_000193.1:p.Trp475Ter | |
| NM_001166550.2:c.1155G>A | NP_001160022.1:p.Trp385Ter | |
| NM_000202.7:c.1425G>A | NP_000193.1:p.Trp475Ter | |
| NM_001166550.3:c.1155G>A | NP_001160022.1:p.Trp385Ter | |
| NM_000202.8:c.1425G>A MANE Select | NP_000193.1:p.Trp475Ter | |
| NM_001166550.4:c.1155G>A | NP_001160022.1:p.Trp385Ter |