Linked Data
ClinVar Variation Id:
3077197
ClinVar RCV Id:
RCV004367077
dbSNP Id:
rs146979323
ExAC:
4:73179446 G / A
gnomAD v2:
4-73179446-G-A
gnomAD v3:
4-72313729-G-A
gnomAD v4:
4-72313729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313729G>A , CM000666.2:g.72313729G>A | GRCh38 |
| NC_000004.11:g.73179446G>A , CM000666.1:g.73179446G>A | GRCh37 |
| NC_000004.10:g.73398310G>A | NCBI36 |
| NG_046955.1:g.260071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1693C>T MANE Select | ENSP00000286657.4:p.Arg565Trp | |
| ENST00000286657.8:c.1693C>T | ENSP00000286657.4:p.Arg565Trp | |
| ENST00000622135.1:c.1693C>T | ENSP00000480055.1:p.Arg565Trp | |
| NM_014243.2:c.1693C>T | NP_055058.2:p.Arg565Trp | |
| XM_011532421.1:c.1636C>T | XP_011530723.1:p.Arg546Trp | |
| XM_011532422.1:c.1609C>T | XP_011530724.1:p.Arg537Trp | |
| XM_011532423.1:c.1051C>T | XP_011530725.1:p.Arg351Trp | |
| XM_011532424.1:c.961C>T | XP_011530726.1:p.Arg321Trp | |
| XM_011532421.2:c.1636C>T | XP_011530723.1:p.Arg546Trp | |
| XM_011532422.3:c.1609C>T | XP_011530724.1:p.Arg537Trp | |
| NM_014243.3:c.1693C>T MANE Select | NP_055058.2:p.Arg565Trp |