gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257349A>C , CM000671.2:g.133257349A>C | GRCh38 |
| NC_000009.11:g.136132736A>C , CM000671.1:g.136132736A>C | GRCh37 |
| NC_000009.10:g.135122557A>C | NCBI36 |
| NG_006669.1:g.20319T>G | |
| NG_006669.2:g.22867T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.403+60T>G | ||
| ENST00000647353.1:n.54-6197T>G | ||
| ENST00000651471.1:n.329+693T>G | ||
| ENST00000679909.1:c.28+17813T>G | ENSP00000506089.1:n.28+17813T>G | |
| ENST00000453660.3:n.385+60T>G | ||
| ENST00000538324.2:c.371+60T>G | ENSP00000483018.1:n.371+60T>G | |
| ENST00000611156.4:c.371+60T>G | ENSP00000483265.1:n.371+60T>G | |
| NM_020469.2:c.374+60T>G | NP_065202.2:n.374+60T>G | |
| NM_020469.3:c.374+60T>G | NP_065202.2:n.374+60T>G |