HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48467968G>T , CM000677.2:g.48467968G>T | GRCh38 |
NC_000015.9:g.48760165G>T , CM000677.1:g.48760165G>T | GRCh37 |
NC_000015.8:g.46547457G>T | NCBI36 |
NG_008805.2:g.182821C>A , LRG_778:g.182821C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4717C>A | ENSP00000453958.2:p.Pro1573Thr | |
ENST00000674301.2:c.4717C>A | ENSP00000501333.2:p.Pro1573Thr | |
ENST00000684448.1:n.3391C>A | ||
ENST00000316623.10:c.4717C>A MANE Select | ENSP00000325527.5:p.Pro1573Thr | |
ENST00000316623.9:c.4717C>A | ENSP00000325527.5:p.Pro1573Thr | |
ENST00000537463.6:c.*480C>A | ENSP00000440294.2:n.*480C>A | |
ENST00000559133.5:c.24C>A | ||
NM_000138.4:c.4717C>A , LRG_778t1:c.4717C>A | NP_000129.3:p.Pro1573Thr | |
NM_000138.5:c.4717C>A MANE Select | NP_000129.3:p.Pro1573Thr |