HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255644T>C , CM000671.2:g.133255644T>C | GRCh38 |
NC_000009.11:g.136131031T>C , CM000671.1:g.136131031T>C | GRCh37 |
NC_000009.10:g.135120852T>C | NCBI36 |
NG_006669.1:g.22024A>G | |
NG_006669.2:g.24572A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1116A>G | ||
ENST00000647353.1:n.54-4492A>G | ||
ENST00000679909.1:c.28+19518A>G | ENSP00000506089.1:n.28+19518A>G | |
ENST00000453660.3:n.1098A>G | ||
ENST00000538324.2:c.1080A>G | ENSP00000483018.1:p.Gly360= | |
ENST00000611156.4:c.*22A>G | ENSP00000483265.1:n.*22A>G | |
NM_020469.2:c.*22A>G | NP_065202.2:n.*22A>G | |
NM_020469.3:c.*22A>G | NP_065202.2:n.*22A>G |