HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255541G>C , CM000671.2:g.133255541G>C | GRCh38 |
NC_000009.11:g.136130928G>C , CM000671.1:g.136130928G>C | GRCh37 |
NC_000009.10:g.135120749G>C | NCBI36 |
NG_006669.1:g.22127C>G | |
NG_006669.2:g.24675C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1219C>G | ||
ENST00000647353.1:n.54-4389C>G | ||
ENST00000679909.1:c.28+19621C>G | ENSP00000506089.1:n.28+19621C>G | |
ENST00000453660.3:n.1201C>G | ||
ENST00000611156.4:c.*125C>G | ENSP00000483265.1:n.*125C>G | |
NM_020469.2:c.*125C>G | NP_065202.2:n.*125C>G | |
NM_020469.3:c.*125C>G | NP_065202.2:n.*125C>G |