HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421755C>T , CM000671.2:g.101421755C>T | GRCh38 |
NC_000009.11:g.104184037C>T , CM000671.1:g.104184037C>T | GRCh37 |
NC_000009.10:g.103223858C>T | NCBI36 |
NG_012387.1:g.19026G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.*54G>A MANE Select | ENSP00000497767.1:n.*54G>A | |
ENST00000648064.1:c.*54G>A | ENSP00000497990.1:n.*54G>A | |
ENST00000648758.1:c.*54G>A | ENSP00000497731.1:n.*54G>A | |
ENST00000374855.8:c.*54G>A | ENSP00000363988.4:n.*54G>A | |
ENST00000616752.1:c.*161G>A | ENSP00000481363.1:n.*161G>A | |
NM_000035.3:c.*54G>A | NP_000026.2:n.*54G>A | |
NM_000035.4:c.*54G>A MANE Select | NP_000026.2:n.*54G>A |