HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192239T>G , CM000671.2:g.137192239T>G | GRCh38 |
NC_000009.11:g.140086691T>G , CM000671.1:g.140086691T>G | GRCh37 |
NC_000009.10:g.139206512T>G | NCBI36 |
NG_027801.1:g.13473A>C | |
NG_027801.2:g.16955A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.2073+20A>C MANE Select | ENSP00000387100.4:n.2073+20A>C | |
ENST00000333046.8:c.1487A>C | ENSP00000327617.4:p.Glu496Ala | |
ENST00000409012.4:c.2073+20A>C | ENSP00000387100.4:n.2073+20A>C | |
ENST00000477345.1:n.2794+20A>C | ||
NM_001128228.2:c.2073+20A>C | NP_001121700.2:n.2073+20A>C | |
NM_001128228.3:c.2073+20A>C MANE Select | NP_001121700.2:n.2073+20A>C |