HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818854C>T , CM000671.2:g.129818854C>T | GRCh38 |
NC_000009.11:g.132581133C>T , CM000671.1:g.132581133C>T | GRCh37 |
NC_000009.10:g.131620954C>T | NCBI36 |
NG_008049.1:g.10309G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.511G>A MANE Select | ENSP00000345719.4:p.Glu171Lys | |
ENST00000651202.1:c.607G>A | ENSP00000498222.1:p.Glu203Lys | |
ENST00000351698.4:c.511G>A | ENSP00000345719.4:p.Glu171Lys | |
ENST00000473604.2:n.621G>A | ||
NM_000113.2:c.511G>A | NP_000104.1:p.Glu171Lys | |
XR_929731.1:n.671G>A | ||
XR_929731.3:n.539G>A | ||
NM_000113.3:c.511G>A MANE Select | NP_000104.1:p.Glu171Lys |