HGVS | Genome Assembly |
---|---|
NC_000009.12:g.32550877C>A , CM000671.2:g.32550877C>A | GRCh38 |
NC_000009.11:g.32550875C>A , CM000671.1:g.32550875C>A | GRCh37 |
NC_000009.10:g.32540875C>A | NCBI36 |
NG_017050.1:g.6748G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360538.7:c.95G>T MANE Select | ENSP00000353735.2:p.Arg32Leu | |
ENST00000680198.1:c.95G>T | ENSP00000505143.1:p.Arg32Leu | |
ENST00000681750.1:c.-148G>T | ENSP00000506413.1:n.-148G>T | |
ENST00000360538.6:c.95G>T | ENSP00000353735.2:p.Arg32Leu | |
ENST00000379858.1:c.3+1557G>T | ENSP00000369187.1:n.3+1557G>T | |
NM_001195622.1:c.3+1557G>T | NP_001182551.1:n.3+1557G>T | |
NM_005802.4:c.95G>T | NP_005793.2:p.Arg32Leu | |
NM_005802.5:c.95G>T MANE Select | NP_005793.2:p.Arg32Leu | |
NM_001195622.2:c.3+1557G>T | NP_001182551.1:n.3+1557G>T |