HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6018582G= , CM000674.2:g.6018582G= | GRCh38 |
NC_000012.11:g.6127748G= , CM000674.1:g.6127748G= | GRCh37 |
NC_000012.10:g.5998009G= | NCBI36 |
NG_009072.1:g.111089C= | |
NG_009072.2:g.111089C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.4836C= MANE Select | ENSP00000261405.5:p.Ala1612= | |
ENST00000261405.9:c.4836C= | ENSP00000261405.5:p.Ala1612= | |
ENST00000538635.5:n.421-24648C= | ||
NM_000552.3:c.4836C= | NP_000543.2:p.Ala1612= | |
NM_000552.4:c.4836C= | NP_000543.2:p.Ala1612= | |
NM_000552.5:c.4836C= MANE Select | NP_000543.3:p.Ala1612= |