HGVS | Genome Assembly |
---|---|
NC_000004.12:g.57047138T>C , CM000666.2:g.57047138T>C | GRCh38 |
NC_000004.11:g.57913304T>C , CM000666.1:g.57913304T>C | GRCh37 |
NC_000004.10:g.57608061T>C | NCBI36 |
NG_031877.1:g.68248A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295666.6:c.476-6205A>G MANE Select | ENSP00000295666.4:n.476-6205A>G | |
ENST00000512512.3:n.116-6205A>G | ||
ENST00000514062.2:c.476-6205A>G | ENSP00000486293.1:n.476-6205A>G | |
NM_001253835.1:c.476-6205A>G | NP_001240764.1:n.476-6205A>G | |
NM_001553.2:c.476-6205A>G | NP_001544.1:n.476-6205A>G | |
NM_001553.3:c.476-6205A>G MANE Select | NP_001544.1:n.476-6205A>G | |
NM_001253835.2:c.476-6205A>G | NP_001240764.1:n.476-6205A>G |