HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192228C>T , CM000671.2:g.137192228C>T | GRCh38 |
NC_000009.11:g.140086680C>T , CM000671.1:g.140086680C>T | GRCh37 |
NC_000009.10:g.139206501C>T | NCBI36 |
NG_027801.1:g.13484G>A | |
NG_027801.2:g.16966G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2073+31G>A MANE Select | ENSP00000387100.4:n.2073+31G>A | |
ENST00000333046.8:c.1498G>A | ENSP00000327617.4:p.Glu500Lys | |
ENST00000409012.4:c.2073+31G>A | ENSP00000387100.4:n.2073+31G>A | |
ENST00000477345.1:n.2794+31G>A | ||
NM_001128228.2:c.2073+31G>A | NP_001121700.2:n.2073+31G>A | |
NM_001128228.3:c.2073+31G>A MANE Select | NP_001121700.2:n.2073+31G>A |