HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192181G>C , CM000671.2:g.137192181G>C | GRCh38 |
NC_000009.11:g.140086633G>C , CM000671.1:g.140086633G>C | GRCh37 |
NC_000009.10:g.139206454G>C | NCBI36 |
NG_027801.1:g.13531C>G | |
NG_027801.2:g.17013C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2074-7C>G MANE Select | ENSP00000387100.4:n.2074-7C>G | |
ENST00000333046.8:c.1545C>G | ENSP00000327617.4:p.His515Gln | |
ENST00000409012.4:c.2074-7C>G | ENSP00000387100.4:n.2074-7C>G | |
ENST00000477345.1:n.2795-7C>G | ||
NM_001128228.2:c.2074-7C>G | NP_001121700.2:n.2074-7C>G | |
NM_001128228.3:c.2074-7C>G MANE Select | NP_001121700.2:n.2074-7C>G |