HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357362T>A , CM000667.2:g.128357362T>A | GRCh38 |
NC_000005.9:g.127693054T>A , CM000667.1:g.127693054T>A | GRCh37 |
NC_000005.8:g.127720953T>A | NCBI36 |
NG_008750.1:g.185682A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2588A>T MANE Select | ENSP00000262464.4:p.Asn863Ile | |
ENST00000262464.8:c.2588A>T | ENSP00000262464.4:p.Asn863Ile | |
ENST00000508053.5:c.2588A>T | ENSP00000424571.1:p.Asn863Ile | |
ENST00000508989.5:c.2489A>T | ENSP00000425596.1:p.Asn830Ile | |
ENST00000619499.4:c.2585A>T | ENSP00000482132.1:p.Asn862Ile | |
NM_001999.3:c.2588A>T | NP_001990.2:p.Asn863Ile | |
XM_017009228.2:c.2435A>T | XP_016864717.1:p.Asn812Ile | |
NM_001999.4:c.2588A>T MANE Select | NP_001990.2:p.Asn863Ile |