Linked Data
dbSNP Id:
rs2075264574
gnomAD v4:
3-122341441-A-G
MyVariant Identifiers:
chr3:g.122060288A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341441A>G , CM000665.2:g.122341441A>G | GRCh38 |
| NC_000003.11:g.122060288A>G , CM000665.1:g.122060288A>G | GRCh37 |
| NC_000003.10:g.123542978A>G | NCBI36 |
| NG_027995.1:g.21278A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.171A>G MANE Select | ENSP00000264474.3:p.Val57= | |
| ENST00000264474.3:c.171A>G | ENSP00000264474.3:p.Val57= | |
| NM_005213.3:c.171A>G | NP_005204.1:p.Val57= | |
| NM_005213.4:c.171A>G MANE Select | NP_005204.1:p.Val57= |