HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541883C>T , CM000671.2:g.98541883C>T | GRCh38 |
NC_000009.11:g.101304165C>T , CM000671.1:g.101304165C>T | GRCh37 |
NC_000009.10:g.100343986C>T | NCBI36 |
NG_016426.1:g.172315G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.620G>A MANE Select | ENSP00000259455.2:p.Arg207Lys | |
ENST00000637410.1:n.398G>A | ||
ENST00000259455.3:c.620G>A | ENSP00000259455.2:p.Arg207Lys | |
ENST00000477471.1:n.407G>A | ||
ENST00000634227.1:n.394G>A | ||
NM_005458.7:c.620G>A | NP_005449.5:p.Arg207Lys | |
XM_017015331.2:c.326G>A | XP_016870820.1:p.Arg109Lys | |
NM_005458.8:c.620G>A MANE Select | NP_005449.5:p.Arg207Lys |