HGVS | Genome Assembly |
---|---|
NC_000009.12:g.97855197G>C , CM000671.2:g.97855197G>C | GRCh38 |
NC_000009.11:g.100617479G>C , CM000671.1:g.100617479G>C | GRCh37 |
NC_000009.10:g.99657300G>C | NCBI36 |
NG_011979.1:g.6943G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375123.5:c.*161G>C MANE Select | ENSP00000364265.3:n.*161G>C | |
ENST00000375123.4:c.*161G>C | ENSP00000364265.3:n.*161G>C | |
NM_004473.3:c.*161G>C | NP_004464.2:n.*161G>C | |
NM_004473.4:c.*161G>C MANE Select | NP_004464.2:n.*161G>C |