Linked Data
ClinVar Variation Id:
340200
dbSNP Id:
rs202012055
ExAC:
21:46893848 G / A
gnomAD v2:
21-46893848-G-A
gnomAD v3:
21-45473934-G-A
gnomAD v4:
21-45473934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45473934G>A , CM000683.2:g.45473934G>A | GRCh38 |
| NC_000021.8:g.46893848G>A , CM000683.1:g.46893848G>A | GRCh37 |
| NC_000021.7:g.45718276G>A | NCBI36 |
| NG_011903.1:g.73752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.1231G>A | ENSP00000347665.5:p.Val411Met | |
| ENST00000651438.1:c.691G>A MANE Select | ENSP00000498485.1:p.Val231Met | |
| ENST00000355480.9:c.1231G>A | ENSP00000347665.5:p.Val411Met | |
| ENST00000359759.8:c.1936G>A | ENSP00000352798.4:p.Val646Met | |
| ENST00000400337.6:c.691G>A | ENSP00000383191.2:p.Val231Met | |
| NM_030582.3:c.1231G>A | NP_085059.2:p.Val411Met | |
| NM_130444.2:c.1936G>A | NP_569711.2:p.Val646Met | |
| NM_130445.3:c.691G>A | NP_569712.2:p.Val231Met | |
| NM_030582.4:c.1231G>A | NP_085059.2:p.Val411Met | |
| NM_130444.3:c.1936G>A | NP_569711.2:p.Val646Met | |
| NM_130445.4:c.691G>A | NP_569712.2:p.Val231Met | |
| NM_001379500.1:c.691G>A MANE Select | NP_001366429.1:p.Val231Met |