HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352057T>C , CM000679.2:g.44352057T>C | GRCh38 |
NC_000017.10:g.42429425T>C , CM000679.1:g.42429425T>C | GRCh37 |
NC_000017.9:g.39784951T>C | NCBI36 |
NG_007886.1:g.11935T>C , LRG_661:g.11935T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1222T>C MANE Select | ENSP00000053867.2:p.Tyr408His | |
ENST00000639447.1:c.1136+305T>C | ENSP00000492014.1:n.1136+305T>C | |
ENST00000053867.7:c.1222T>C | ENSP00000053867.2:p.Tyr408His | |
ENST00000586443.1:c.663T>C | ||
ENST00000589265.5:c.751T>C | ENSP00000467616.1:p.Tyr251His | |
NM_002087.3:c.1222T>C | NP_002078.1:p.Tyr408His | |
XM_005257253.1:c.1222T>C | XP_005257310.1:p.Tyr408His | |
XM_024450730.1:c.1222T>C | XP_024306498.1:p.Tyr408His | |
NM_002087.4:c.1222T>C MANE Select | NP_002078.1:p.Tyr408His |