HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14506982T>G , CM000674.2:g.14506982T>G | GRCh38 |
NC_000012.11:g.14659916T>G , CM000674.1:g.14659916T>G | GRCh37 |
NC_000012.10:g.14551183T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000240617.10:c.1323A>C MANE Select | ENSP00000240617.5:p.Gln441His | |
ENST00000240617.9:c.1323A>C | ENSP00000240617.5:p.Gln441His | |
NM_024829.5:c.1323A>C | NP_079105.4:p.Gln441His | |
NM_024829.6:c.1323A>C MANE Select | NP_079105.4:p.Gln441His |