HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192285C>T , CM000671.2:g.137192285C>T | GRCh38 |
NC_000009.11:g.140086737C>T , CM000671.1:g.140086737C>T | GRCh37 |
NC_000009.10:g.139206558C>T | NCBI36 |
NG_027801.1:g.13427G>A | |
NG_027801.2:g.16909G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.2047G>A MANE Select | ENSP00000387100.4:p.Ala683Thr | |
ENST00000333046.8:c.1441G>A | ENSP00000327617.4:p.Ala481Thr | |
ENST00000409012.4:c.2047G>A | ENSP00000387100.4:p.Ala683Thr | |
ENST00000477345.1:n.2768G>A | ||
NM_001128228.2:c.2047G>A | NP_001121700.2:p.Ala683Thr | |
NM_001128228.3:c.2047G>A MANE Select | NP_001121700.2:p.Ala683Thr |