HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421752G>T , CM000671.2:g.101421752G>T | GRCh38 |
NC_000009.11:g.104184034G>T , CM000671.1:g.104184034G>T | GRCh37 |
NC_000009.10:g.103223855G>T | NCBI36 |
NG_012387.1:g.19029C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.*57C>A MANE Select | ENSP00000497767.1:n.*57C>A | |
ENST00000648064.1:c.*57C>A | ENSP00000497990.1:n.*57C>A | |
ENST00000648758.1:c.*57C>A | ENSP00000497731.1:n.*57C>A | |
ENST00000374855.8:c.*57C>A | ENSP00000363988.4:n.*57C>A | |
ENST00000616752.1:c.*164C>A | ENSP00000481363.1:n.*164C>A | |
NM_000035.3:c.*57C>A | NP_000026.2:n.*57C>A | |
NM_000035.4:c.*57C>A MANE Select | NP_000026.2:n.*57C>A |