HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992936C>T , CM000670.2:g.16992936C>T | GRCh38 |
NC_000008.10:g.16850445C>T , CM000670.1:g.16850445C>T | GRCh37 |
NC_000008.9:g.16894816C>T | NCBI36 |
NG_015978.1:g.14230G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.*136G>A MANE Select | ENSP00000180166.5:n.*136G>A | |
ENST00000180166.5:c.*136G>A | ENSP00000180166.5:n.*136G>A | |
NM_019851.2:c.*136G>A | NP_062825.1:n.*136G>A | |
NM_019851.3:c.*136G>A MANE Select | NP_062825.1:n.*136G>A |