HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644231C>A , CM000671.2:g.133644231C>A | GRCh38 |
NC_000009.11:g.136509353C>A , CM000671.1:g.136509353C>A | GRCh37 |
NC_000009.10:g.135499174C>A | NCBI36 |
NG_008645.1:g.12869C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.935C>A MANE Select | ENSP00000376776.2:p.Pro312Gln | |
ENST00000393056.6:c.935C>A | ENSP00000376776.2:p.Pro312Gln | |
NM_000787.3:c.935C>A | NP_000778.3:p.Pro312Gln | |
NM_000787.4:c.935C>A MANE Select | NP_000778.3:p.Pro312Gln |