HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255789T>C , CM000671.2:g.133255789T>C | GRCh38 |
NC_000009.11:g.136131176T>C , CM000671.1:g.136131176T>C | GRCh37 |
NC_000009.10:g.135120997T>C | NCBI36 |
NG_006669.1:g.21879A>G | |
NG_006669.2:g.24427A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.971A>G | ||
ENST00000647353.1:n.54-4637A>G | ||
ENST00000679909.1:c.28+19373A>G | ENSP00000506089.1:n.28+19373A>G | |
ENST00000453660.3:n.953A>G | ||
ENST00000538324.2:c.939A>G | ENSP00000483018.1:p.Lys313= | |
ENST00000611156.4:c.939A>G | ENSP00000483265.1:p.Lys313= | |
NM_020469.2:c.942A>G | NP_065202.2:p.Lys314= | |
NM_020469.3:c.942A>G | NP_065202.2:p.Lys314= |