HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257212C>A , CM000671.2:g.133257212C>A | GRCh38 |
NC_000009.11:g.136132599C>A , CM000671.1:g.136132599C>A | GRCh37 |
NC_000009.10:g.135122420C>A | NCBI36 |
NG_006669.1:g.20456G>T | |
NG_006669.2:g.23004G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+197G>T | ||
ENST00000647353.1:n.54-6060G>T | ||
ENST00000651471.1:n.329+830G>T | ||
ENST00000679909.1:c.28+17950G>T | ENSP00000506089.1:n.28+17950G>T | |
ENST00000453660.3:n.385+197G>T | ||
ENST00000538324.2:c.371+197G>T | ENSP00000483018.1:n.371+197G>T | |
ENST00000611156.4:c.371+197G>T | ENSP00000483265.1:n.371+197G>T | |
NM_020469.2:c.374+197G>T | NP_065202.2:n.374+197G>T | |
NM_020469.3:c.374+197G>T | NP_065202.2:n.374+197G>T |