HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128261758A>T , CM000667.2:g.128261758A>T | GRCh38 |
NC_000005.9:g.127597450A>T , CM000667.1:g.127597450A>T | GRCh37 |
NC_000005.8:g.127625349A>T | NCBI36 |
NG_008750.1:g.281286T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.8342T>A MANE Select | ENSP00000262464.4:p.Ile2781Asn | |
ENST00000262464.8:c.8342T>A | ENSP00000262464.4:p.Ile2781Asn | |
ENST00000508053.5:c.8342T>A | ENSP00000424571.1:p.Ile2781Asn | |
ENST00000619499.4:c.8339T>A | ENSP00000482132.1:p.Ile2780Asn | |
NM_001999.3:c.8342T>A | NP_001990.2:p.Ile2781Asn | |
XM_017009228.2:c.8189T>A | XP_016864717.1:p.Ile2730Asn | |
NM_001999.4:c.8342T>A MANE Select | NP_001990.2:p.Ile2781Asn |