HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256278G>C , CM000671.2:g.133256278G>C | GRCh38 |
NC_000009.11:g.136131665G>C , CM000671.1:g.136131665G>C | GRCh37 |
NC_000009.10:g.135121486G>C | NCBI36 |
NG_006669.1:g.21390C>G | |
NG_006669.2:g.23938C>G |
HGVS | Amino-acid change | |
---|---|---|
NM_020469.2:c.453C>G | NP_065202.2:p.Val151= | |
NM_020469.3:c.453C>G | NP_065202.2:p.Val151= | |
ENST00000453660.3:n.464C>G | ||
ENST00000538324.2:c.450C>G | ENSP00000483018.1:p.Val150= | |
ENST00000611156.4:c.450C>G | ENSP00000483265.1:p.Val150= |