Linked Data
ClinVar Variation Id:
7363
dbSNP Id:
rs121909077
ExAC:
6:35467809 G / A
gnomAD v2:
6-35467809-G-A
gnomAD v3:
6-35500032-G-A
gnomAD v4:
6-35500032-G-A
PubMed:
PMID:17620573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500032G>A , CM000668.2:g.35500032G>A | GRCh38 |
| NC_000006.11:g.35467809G>A , CM000668.1:g.35467809G>A | GRCh37 |
| NC_000006.10:g.35575787G>A | NCBI36 |
| NG_009077.1:g.17839C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229771.11:c.1444C>T MANE Select | ENSP00000229771.6:p.Arg482Trp | |
| ENST00000229771.10:c.1444C>T | ENSP00000229771.6:p.Arg482Trp | |
| ENST00000322263.8:c.1285C>T | ENSP00000319414.4:p.Arg429Trp | |
| ENST00000614066.4:c.1438C>T | ENSP00000477534.1:p.Arg480Trp | |
| NM_001289395.1:c.1285C>T | NP_001276324.1:p.Arg429Trp | |
| NM_003322.4:c.1444C>T | NP_003313.3:p.Arg482Trp | |
| NM_003322.5:c.1444C>T | NP_003313.3:p.Arg482Trp | |
| NM_003322.6:c.1444C>T MANE Select | NP_003313.3:p.Arg482Trp | |
| NM_001289395.2:c.1285C>T | NP_001276324.1:p.Arg429Trp |