HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149884834C>G , CM000663.2:g.149884834C>G | GRCh38 |
NC_000001.10:g.149856384C>G , CM000663.1:g.149856384C>G | GRCh37 |
NC_000001.9:g.148123008C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369155.4:c.*1426G>C MANE Select | ENSP00000358151.2:n.*1426G>C | |
ENST00000369155.3:c.*1426G>C | ENSP00000358151.2:n.*1426G>C | |
ENST00000369160.3:c.377+1430G>C | ENSP00000375736.2:n.377+1430G>C | |
NM_003528.2:c.*1426G>C | NP_003519.1:n.*1426G>C | |
NM_003528.3:c.*1426G>C MANE Select | NP_003519.1:n.*1426G>C |