HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590955C>T , CM000679.2:g.61590955C>T | GRCh38 |
NC_000017.10:g.59668316C>T , CM000679.1:g.59668316C>T | GRCh37 |
NC_000017.9:g.57023098C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.226G>A MANE Select | ENSP00000427802.1:p.Ala76Thr | |
ENST00000521764.2:c.226G>A | ENSP00000427802.1:p.Ala76Thr | |
NM_199290.3:c.226G>A | NP_954984.1:p.Ala76Thr | |
NM_199290.4:c.226G>A MANE Select | NP_954984.1:p.Ala76Thr |