HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134416616A>C , CM000671.2:g.134416616A>C | GRCh38 |
NC_000009.11:g.137308462A>C , CM000671.1:g.137308462A>C | GRCh37 |
NC_000009.10:g.136448283A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000481739.2:c.611-542A>C MANE Select | ENSP00000419692.1:n.611-542A>C | |
ENST00000672570.1:c.530-542A>C | ENSP00000500402.1:n.530-542A>C | |
ENST00000356384.4:n.1021-542A>C | ||
ENST00000481739.1:c.611-542A>C | ENSP00000419692.1:n.611-542A>C | |
NM_001291920.1:c.530-542A>C | NP_001278849.1:n.530-542A>C | |
NM_001291921.1:c.320-542A>C | NP_001278850.1:n.320-542A>C | |
NM_002957.5:c.611-542A>C | NP_002948.1:n.611-542A>C | |
NM_002957.6:c.611-542A>C MANE Select | NP_002948.1:n.611-542A>C | |
NM_001291921.2:c.320-542A>C | NP_001278850.1:n.320-542A>C | |
NM_001291920.2:c.530-542A>C | NP_001278849.1:n.530-542A>C |