HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421411G>T , CM000671.2:g.101421411G>T | GRCh38 |
NC_000009.11:g.104183693G>T , CM000671.1:g.104183693G>T | GRCh37 |
NC_000009.10:g.103223514G>T | NCBI36 |
NG_012387.1:g.19370C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.*398C>A MANE Select | ENSP00000497767.1:n.*398C>A | |
ENST00000374855.8:c.*398C>A | ENSP00000363988.4:n.*398C>A | |
NM_000035.3:c.*398C>A | NP_000026.2:n.*398C>A | |
NM_000035.4:c.*398C>A MANE Select | NP_000026.2:n.*398C>A |