Linked Data
dbSNP Id:
rs770962641
ExAC:
3:122060290 G / A
gnomAD v2:
3-122060290-G-A
gnomAD v3:
3-122341443-G-A
gnomAD v4:
3-122341443-G-A
COSMIC:
COSM4398712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341443G>A , CM000665.2:g.122341443G>A | GRCh38 |
| NC_000003.11:g.122060290G>A , CM000665.1:g.122060290G>A | GRCh37 |
| NC_000003.10:g.123542980G>A | NCBI36 |
| NG_027995.1:g.21280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.173G>A MANE Select | ENSP00000264474.3:p.Arg58Gln | |
| ENST00000264474.3:c.173G>A | ENSP00000264474.3:p.Arg58Gln | |
| NM_005213.3:c.173G>A | NP_005204.1:p.Arg58Gln | |
| NM_005213.4:c.173G>A MANE Select | NP_005204.1:p.Arg58Gln |