HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590850C>A , CM000679.2:g.61590850C>A | GRCh38 |
NC_000017.10:g.59668211C>A , CM000679.1:g.59668211C>A | GRCh37 |
NC_000017.9:g.57022993C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.331G>T MANE Select | ENSP00000427802.1:p.Val111Phe | |
ENST00000521764.2:c.331G>T | ENSP00000427802.1:p.Val111Phe | |
NM_199290.3:c.331G>T | NP_954984.1:p.Val111Phe | |
NM_199290.4:c.331G>T MANE Select | NP_954984.1:p.Val111Phe |