HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257468G>T , CM000671.2:g.133257468G>T | GRCh38 |
NC_000009.11:g.136132855G>T , CM000671.1:g.136132855G>T | GRCh37 |
NC_000009.10:g.135122676G>T | NCBI36 |
NG_006669.1:g.20200C>A | |
NG_006669.2:g.22748C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.344C>A | ||
ENST00000647353.1:n.54-6316C>A | ||
ENST00000651471.1:n.329+574C>A | ||
ENST00000679909.1:c.28+17694C>A | ENSP00000506089.1:n.28+17694C>A | |
ENST00000453660.3:n.326C>A | ||
ENST00000538324.2:c.312C>A | ENSP00000483018.1:p.Leu104= | |
ENST00000611156.4:c.312C>A | ENSP00000483265.1:p.Leu104= | |
NM_020469.2:c.315C>A | NP_065202.2:p.Leu105= | |
NM_020469.3:c.315C>A | NP_065202.2:p.Leu105= |