HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357356G>T , CM000667.2:g.128357356G>T | GRCh38 |
NC_000005.9:g.127693048G>T , CM000667.1:g.127693048G>T | GRCh37 |
NC_000005.8:g.127720947G>T | NCBI36 |
NG_008750.1:g.185688C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2594C>A MANE Select | ENSP00000262464.4:p.Ala865Asp | |
ENST00000262464.8:c.2594C>A | ENSP00000262464.4:p.Ala865Asp | |
ENST00000508053.5:c.2594C>A | ENSP00000424571.1:p.Ala865Asp | |
ENST00000508989.5:c.2495C>A | ENSP00000425596.1:p.Ala832Asp | |
ENST00000619499.4:c.2591C>A | ENSP00000482132.1:p.Ala864Asp | |
NM_001999.3:c.2594C>A | NP_001990.2:p.Ala865Asp | |
XM_017009228.2:c.2441C>A | XP_016864717.1:p.Ala814Asp | |
NM_001999.4:c.2594C>A MANE Select | NP_001990.2:p.Ala865Asp |