HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357394A>G , CM000667.2:g.128357394A>G | GRCh38 |
NC_000005.9:g.127693086A>G , CM000667.1:g.127693086A>G | GRCh37 |
NC_000005.8:g.127720985A>G | NCBI36 |
NG_008750.1:g.185650T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2556T>C MANE Select | ENSP00000262464.4:p.Asp852= | |
ENST00000262464.8:c.2556T>C | ENSP00000262464.4:p.Asp852= | |
ENST00000508053.5:c.2556T>C | ENSP00000424571.1:p.Asp852= | |
ENST00000508989.5:c.2457T>C | ENSP00000425596.1:p.Asp819= | |
ENST00000619499.4:c.2553T>C | ENSP00000482132.1:p.Asp851= | |
NM_001999.3:c.2556T>C | NP_001990.2:p.Asp852= | |
XM_017009228.2:c.2403T>C | XP_016864717.1:p.Asp801= | |
NM_001999.4:c.2556T>C MANE Select | NP_001990.2:p.Asp852= |