HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128261848A>T , CM000667.2:g.128261848A>T | GRCh38 |
NC_000005.9:g.127597540A>T , CM000667.1:g.127597540A>T | GRCh37 |
NC_000005.8:g.127625439A>T | NCBI36 |
NG_008750.1:g.281196T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.8252T>A MANE Select | ENSP00000262464.4:p.Val2751Asp | |
ENST00000262464.8:c.8252T>A | ENSP00000262464.4:p.Val2751Asp | |
ENST00000508053.5:c.8252T>A | ENSP00000424571.1:p.Val2751Asp | |
ENST00000619499.4:c.8249T>A | ENSP00000482132.1:p.Val2750Asp | |
NM_001999.3:c.8252T>A | NP_001990.2:p.Val2751Asp | |
XM_017009228.2:c.8099T>A | XP_016864717.1:p.Val2700Asp | |
NM_001999.4:c.8252T>A MANE Select | NP_001990.2:p.Val2751Asp |