HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713257T>G , CM000681.2:g.6713257T>G | GRCh38 |
NC_000019.9:g.6713268T>G , CM000681.1:g.6713268T>G | GRCh37 |
NC_000019.8:g.6664268T>G | NCBI36 |
NG_009557.1:g.12395A>C , LRG_27:g.12395A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.812A>C | ENSP00000512083.1:p.Gln271Pro | |
ENST00000695654.1:c.59A>C | ENSP00000512085.1:p.Gln20Pro | |
ENST00000695692.1:n.259A>C | ||
ENST00000245907.11:c.935A>C MANE Select | ENSP00000245907.4:p.Gln312Pro | |
ENST00000245907.10:c.935A>C | ENSP00000245907.4:p.Gln312Pro | |
ENST00000594270.5:n.59A>C | ||
ENST00000595577.1:n.439A>C | ||
ENST00000597442.5:n.185A>C | ||
NM_000064.3:c.935A>C | NP_000055.2:p.Gln312Pro | |
NM_000064.4:c.935A>C MANE Select | NP_000055.2:p.Gln312Pro |