HGVS | Genome Assembly |
---|---|
NC_000002.12:g.219060578C>A , CM000664.2:g.219060578C>A | GRCh38 |
NC_000002.11:g.219925300C>A , CM000664.1:g.219925300C>A | GRCh37 |
NC_000002.10:g.219633544C>A | NCBI36 |
NG_016741.1:g.4939G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295731.7:c.-111G>T MANE Select | ENSP00000295731.5:n.-111G>T | |
NM_002181.4:c.-111G>T MANE Select | NP_002172.2:n.-111G>T |