HGVS | Genome Assembly |
---|---|
NC_000001.11:g.247672653C>T , CM000663.2:g.247672653C>T | GRCh38 |
NC_000001.10:g.247835955C>T , CM000663.1:g.247835955C>T | GRCh37 |
NC_000001.9:g.245902578C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000359688.4:c.389G>A | ENSP00000352717.2:p.Ser130Asn | |
ENST00000642119.1:c.389G>A MANE Select | ENSP00000493110.1:p.Ser130Asn | |
ENST00000359688.3:c.389G>A | ENSP00000352717.2:p.Ser130Asn | |
NM_001005487.1:c.389G>A | NP_001005487.1:p.Ser130Asn | |
NM_001005487.2:c.389G>A MANE Select | NP_001005487.1:p.Ser130Asn |