HGVS | Genome Assembly |
---|---|
NC_000010.11:g.52315275G>T , CM000672.2:g.52315275G>T | GRCh38 |
NC_000010.10:g.54075035G>T , CM000672.1:g.54075035G>T | GRCh37 |
NC_000010.9:g.53745041G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000373970.4:c.406+190G>T MANE Select | ENSP00000363081.3:n.406+190G>T | |
ENST00000373970.3:c.406+190G>T | ENSP00000363081.3:n.406+190G>T | |
ENST00000467359.5:n.406+190G>T | ||
ENST00000476752.1:n.24G>T | ||
ENST00000494277.5:n.29+190G>T | ||
NM_012242.2:c.406+190G>T | NP_036374.1:n.406+190G>T | |
NM_012242.3:c.406+190G>T | NP_036374.1:n.406+190G>T | |
NM_012242.4:c.406+190G>T MANE Select | NP_036374.1:n.406+190G>T |