HGVS | Genome Assembly |
---|---|
NC_000009.12:g.78304934T>C , CM000671.2:g.78304934T>C | GRCh38 |
NC_000009.11:g.80919850T>C , CM000671.1:g.80919850T>C | GRCh37 |
NC_000009.10:g.80109670T>C | NCBI36 |
NG_012165.1:g.12792T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376588.4:c.391T>C MANE Select | ENSP00000365773.3:p.Tyr131His | |
ENST00000347159.6:c.391T>C | ENSP00000317606.2:p.Tyr131His | |
ENST00000376588.3:c.391T>C | ENSP00000365773.3:p.Tyr131His | |
NM_021154.4:c.391T>C | NP_066977.1:p.Tyr131His | |
NM_058179.3:c.391T>C | NP_478059.1:p.Tyr131His | |
NM_058179.4:c.391T>C MANE Select | NP_478059.1:p.Tyr131His | |
NM_021154.5:c.391T>C | NP_066977.1:p.Tyr131His |