HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192178A>C , CM000671.2:g.137192178A>C | GRCh38 |
NC_000009.11:g.140086630A>C , CM000671.1:g.140086630A>C | GRCh37 |
NC_000009.10:g.139206451A>C | NCBI36 |
NG_027801.1:g.13534T>G | |
NG_027801.2:g.17016T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2074-4T>G MANE Select | ENSP00000387100.4:n.2074-4T>G | |
ENST00000333046.8:c.1548T>G | ENSP00000327617.4:p.Phe516Leu | |
ENST00000409012.4:c.2074-4T>G | ENSP00000387100.4:n.2074-4T>G | |
ENST00000477345.1:n.2795-4T>G | ||
NM_001128228.2:c.2074-4T>G | NP_001121700.2:n.2074-4T>G | |
NM_001128228.3:c.2074-4T>G MANE Select | NP_001121700.2:n.2074-4T>G |