Linked Data
ClinVar Variation Id:
14545
ClinVar RCV Id:
RCV000015646
dbSNP Id:
rs121912484
gnomAD v4:
1-209625794-C-T
PubMed:
PMID:9457915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209625794C>T , CM000663.2:g.209625794C>T | GRCh38 |
| NC_000001.10:g.209799139C>T , CM000663.1:g.209799139C>T | GRCh37 |
| NC_000001.9:g.207865762C>T | NCBI36 |
| NG_007116.1:g.31682G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.1830G>A MANE Select | ENSP00000348384.3:p.Trp610Ter | |
| ENST00000356082.8:c.1830G>A | ENSP00000348384.3:p.Trp610Ter | |
| ENST00000367030.7:c.1830G>A | ENSP00000355997.3:p.Trp610Ter | |
| ENST00000391911.5:c.1830G>A | ENSP00000375778.1:p.Trp610Ter | |
| NM_000228.2:c.1830G>A | NP_000219.2:p.Trp610Ter | |
| NM_001017402.1:c.1830G>A | NP_001017402.1:p.Trp610Ter | |
| NM_001127641.1:c.1830G>A | NP_001121113.1:p.Trp610Ter | |
| XM_005273124.3:c.1830G>A | XP_005273181.1:p.Trp610Ter | |
| XM_005273124.4:c.1830G>A | XP_005273181.1:p.Trp610Ter | |
| XM_017001272.2:c.1638G>A | XP_016856761.1:p.Trp546Ter | |
| NM_000228.3:c.1830G>A MANE Select | NP_000219.2:p.Trp610Ter | |
| NM_001017402.2:c.1830G>A | NP_001017402.1:p.Trp610Ter |