HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293214T>A , CM000663.2:g.168293214T>A | GRCh38 |
NC_000001.10:g.168262452T>A , CM000663.1:g.168262452T>A | GRCh37 |
NC_000001.9:g.166529076T>A | NCBI36 |
NG_008244.1:g.17175T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367821.8:c.539T>A MANE Select | ENSP00000356795.3:p.Met180Lys | |
ENST00000367821.7:c.539T>A | ENSP00000356795.3:p.Met180Lys | |
ENST00000431969.5:c.336T>A | ||
NM_005149.2:c.539T>A | NP_005140.1:p.Met180Lys | |
NM_005149.3:c.539T>A MANE Select | NP_005140.1:p.Met180Lys |