HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17129743A>T , CM000672.2:g.17129743A>T | GRCh38 |
NC_000010.10:g.17171742A>T , CM000672.1:g.17171742A>T | GRCh37 |
NC_000010.9:g.17211748A>T | NCBI36 |
NG_008967.1:g.5075T>A , LRG_540:g.5075T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377833.10:c.23T>A MANE Select | ENSP00000367064.4:p.Phe8Tyr | |
ENST00000377823.1:c.23T>A | ENSP00000367054.1:p.Phe8Tyr | |
ENST00000377833.8:c.23T>A | ENSP00000367064.4:p.Phe8Tyr | |
NM_001081.3:c.23T>A , LRG_540t1:c.23T>A | NP_001072.2:p.Phe8Tyr | |
XM_011519708.1:c.23T>A | XP_011518010.1:p.Phe8Tyr | |
XM_011519708.2:c.23T>A | XP_011518010.1:p.Phe8Tyr | |
NM_001081.4:c.23T>A MANE Select | NP_001072.2:p.Phe8Tyr |