HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541922T>A , CM000671.2:g.98541922T>A | GRCh38 |
NC_000009.11:g.101304204T>A , CM000671.1:g.101304204T>A | GRCh37 |
NC_000009.10:g.100344025T>A | NCBI36 |
NG_016426.1:g.172276A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.581A>T MANE Select | ENSP00000259455.2:p.Gln194Leu | |
ENST00000637410.1:n.359A>T | ||
ENST00000637717.1:c.197A>T | ENSP00000490789.1:p.Gln66Leu | |
ENST00000259455.3:c.581A>T | ENSP00000259455.2:p.Gln194Leu | |
ENST00000477471.1:n.368A>T | ||
ENST00000634227.1:n.355A>T | ||
NM_005458.7:c.581A>T | NP_005449.5:p.Gln194Leu | |
XM_017015331.2:c.287A>T | XP_016870820.1:p.Gln96Leu | |
NM_005458.8:c.581A>T MANE Select | NP_005449.5:p.Gln194Leu |