HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123547A>C , CM000679.2:g.72123547A>C | GRCh38 |
NC_000017.10:g.70119688A>C , CM000679.1:g.70119688A>C | GRCh37 |
NC_000017.9:g.67631283A>C | NCBI36 |
NG_012490.1:g.7528A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.690A>C MANE Select | ENSP00000245479.2:p.Gln230His | |
ENST00000245479.2:c.690A>C | ENSP00000245479.2:p.Gln230His | |
NM_000346.3:c.690A>C | NP_000337.1:p.Gln230His | |
NM_000346.4:c.690A>C MANE Select | NP_000337.1:p.Gln230His |