HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541898G>T , CM000671.2:g.98541898G>T | GRCh38 |
NC_000009.11:g.101304180G>T , CM000671.1:g.101304180G>T | GRCh37 |
NC_000009.10:g.100344001G>T | NCBI36 |
NG_016426.1:g.172300C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.605C>A MANE Select | ENSP00000259455.2:p.Thr202Lys | |
ENST00000637410.1:n.383C>A | ||
ENST00000637717.1:c.221C>A | ENSP00000490789.1:p.Thr74Lys | |
ENST00000259455.3:c.605C>A | ENSP00000259455.2:p.Thr202Lys | |
ENST00000477471.1:n.392C>A | ||
ENST00000634227.1:n.379C>A | ||
NM_005458.7:c.605C>A | NP_005449.5:p.Thr202Lys | |
XM_017015331.2:c.311C>A | XP_016870820.1:p.Thr104Lys | |
NM_005458.8:c.605C>A MANE Select | NP_005449.5:p.Thr202Lys |