HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257307T>A , CM000671.2:g.133257307T>A | GRCh38 |
NC_000009.11:g.136132694T>A , CM000671.1:g.136132694T>A | GRCh37 |
NC_000009.10:g.135122515T>A | NCBI36 |
NG_006669.1:g.20361A>T | |
NG_006669.2:g.22909A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+102A>T | ||
ENST00000647353.1:n.54-6155A>T | ||
ENST00000651471.1:n.329+735A>T | ||
ENST00000679909.1:c.28+17855A>T | ENSP00000506089.1:n.28+17855A>T | |
ENST00000453660.3:n.385+102A>T | ||
ENST00000538324.2:c.371+102A>T | ENSP00000483018.1:n.371+102A>T | |
ENST00000611156.4:c.371+102A>T | ENSP00000483265.1:n.371+102A>T | |
NM_020469.2:c.374+102A>T | NP_065202.2:n.374+102A>T | |
NM_020469.3:c.374+102A>T | NP_065202.2:n.374+102A>T |