HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255714C>T , CM000671.2:g.133255714C>T | GRCh38 |
NC_000009.11:g.136131101C>T , CM000671.1:g.136131101C>T | GRCh37 |
NC_000009.10:g.135120922C>T | NCBI36 |
NG_006669.1:g.21954G>A | |
NG_006669.2:g.24502G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1046G>A | ||
ENST00000647353.1:n.54-4562G>A | ||
ENST00000679909.1:c.28+19448G>A | ENSP00000506089.1:n.28+19448G>A | |
ENST00000453660.3:n.1028G>A | ||
ENST00000538324.2:c.1014G>A | ENSP00000483018.1:p.Leu338= | |
ENST00000611156.4:c.1014G>A | ENSP00000483265.1:p.Leu338= | |
NM_020469.2:c.1017G>A | NP_065202.2:p.Leu339= | |
NM_020469.3:c.1017G>A | NP_065202.2:p.Leu339= |