Linked Data
dbSNP Id:
rs375097516
ExAC:
9:136132776 C / T
gnomAD v2:
9-136132776-C-T
gnomAD v4:
9-133257389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257389C>T , CM000671.2:g.133257389C>T | GRCh38 |
| NC_000009.11:g.136132776C>T , CM000671.1:g.136132776C>T | GRCh37 |
| NC_000009.10:g.135122597C>T | NCBI36 |
| NG_006669.1:g.20279G>A | |
| NG_006669.2:g.22827G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+20G>A | ||
| ENST00000647353.1:n.54-6237G>A | ||
| ENST00000651471.1:n.329+653G>A | ||
| ENST00000679909.1:c.28+17773G>A | ENSP00000506089.1:n.28+17773G>A | |
| ENST00000453660.3:n.385+20G>A | ||
| ENST00000538324.2:c.371+20G>A | ENSP00000483018.1:n.371+20G>A | |
| ENST00000611156.4:c.371+20G>A | ENSP00000483265.1:n.371+20G>A | |
| NM_020469.2:c.374+20G>A | NP_065202.2:n.374+20G>A | |
| NM_020469.3:c.374+20G>A | NP_065202.2:n.374+20G>A |