Linked Data
ClinVar Variation Id:
6106
ClinVar RCV Id:
RCV000006480
dbSNP Id:
rs267606758
gnomAD v4:
8-64596755-A-T
PubMed:
PMID:19439420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64596755A>T , CM000670.2:g.64596755A>T | GRCh38 |
| NC_000008.10:g.65509312A>T , CM000670.1:g.65509312A>T | GRCh37 |
| NC_000008.9:g.65671866A>T | NCBI36 |
| NG_008338.1:g.207037T>A | |
| NG_008338.2:g.207037T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.1408T>A MANE Select | ENSP00000310721.3:p.Phe470Ile | |
| ENST00000310193.3:c.1408T>A | ENSP00000310721.3:p.Phe470Ile | |
| ENST00000523954.1:n.508-6911T>A | ||
| NM_004820.3:c.1408T>A | NP_004811.1:p.Phe470Ile | |
| NM_001324112.1:c.1234-6911T>A | NP_001311041.1:n.1234-6911T>A | |
| NM_004820.4:c.1408T>A | NP_004811.1:p.Phe470Ile | |
| XM_017014002.1:c.1474T>A | XP_016869491.1:p.Phe492Ile | |
| NM_004820.5:c.1408T>A MANE Select | NP_004811.1:p.Phe470Ile | |
| NM_001324112.2:c.1234-6911T>A | NP_001311041.1:n.1234-6911T>A |