HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21010738C>T , CM000664.2:g.21010738C>T | GRCh38 |
NC_000002.11:g.21233610C>T , CM000664.1:g.21233610C>T | GRCh37 |
NC_000002.10:g.21087115C>T | NCBI36 |
NG_011793.1:g.38336G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.6130G>A MANE Select | ENSP00000233242.1:p.Asp2044Asn | |
ENST00000616098.4:c.6130G>A | ENSP00000477990.1:p.Asp2044Asn | |
NM_000384.2:c.6130G>A | NP_000375.2:p.Asp2044Asn | |
XM_011532809.1:c.5865-1G>A | XP_011531111.1:n.5865-1G>A | |
NM_000384.3:c.6130G>A MANE Select | NP_000375.3:p.Asp2044Asn |