HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98578046G>T , CM000671.2:g.98578046G>T | GRCh38 |
NC_000009.11:g.101340328G>T , CM000671.1:g.101340328G>T | GRCh37 |
NC_000009.10:g.100380149G>T | NCBI36 |
NG_016426.1:g.136152C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.348C>A MANE Select | ENSP00000259455.2:p.Ala116= | |
ENST00000637410.1:n.126C>A | ||
ENST00000637717.1:c.-37C>A | ENSP00000490789.1:n.-37C>A | |
ENST00000259455.3:c.348C>A | ENSP00000259455.2:p.Ala116= | |
ENST00000634227.1:n.122C>A | ||
NM_005458.7:c.348C>A | NP_005449.5:p.Ala116= | |
NM_005458.8:c.348C>A MANE Select | NP_005449.5:p.Ala116= |