HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257450G>A , CM000671.2:g.133257450G>A | GRCh38 |
NC_000009.11:g.136132837G>A , CM000671.1:g.136132837G>A | GRCh37 |
NC_000009.10:g.135122658G>A | NCBI36 |
NG_006669.1:g.20218C>T | |
NG_006669.2:g.22766C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.362C>T | ||
ENST00000647353.1:n.54-6298C>T | ||
ENST00000651471.1:n.329+592C>T | ||
ENST00000679909.1:c.28+17712C>T | ENSP00000506089.1:n.28+17712C>T | |
ENST00000453660.3:n.344C>T | ||
ENST00000538324.2:c.330C>T | ENSP00000483018.1:p.Leu110= | |
ENST00000611156.4:c.330C>T | ENSP00000483265.1:p.Leu110= | |
NM_020469.2:c.333C>T | NP_065202.2:p.Leu111= | |
NM_020469.3:c.333C>T | NP_065202.2:p.Leu111= |