HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96160200A>C , CM000670.2:g.96160200A>C | GRCh38 |
NC_000008.10:g.97172428A>C , CM000670.1:g.97172428A>C | GRCh37 |
NC_000008.9:g.97241604A>C | NCBI36 |
NG_008981.1:g.5593T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.406+87T>G MANE Select | ENSP00000287020.4:n.406+87T>G | |
ENST00000287020.6:c.406+87T>G | ENSP00000287020.4:n.406+87T>G | |
ENST00000620978.1:c.406+87T>G | ENSP00000480170.1:n.406+87T>G | |
ENST00000621429.1:c.406+87T>G | ENSP00000483711.1:n.406+87T>G | |
NM_001001557.2:c.406+87T>G | NP_001001557.1:n.406+87T>G | |
NM_001001557.3:c.406+87T>G | NP_001001557.1:n.406+87T>G | |
NM_001001557.4:c.406+87T>G MANE Select | NP_001001557.1:n.406+87T>G |