Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257289C>T , CM000671.2:g.133257289C>T | GRCh38 |
| NC_000009.11:g.136132676C>T , CM000671.1:g.136132676C>T | GRCh37 |
| NC_000009.10:g.135122497C>T | NCBI36 |
| NG_006669.1:g.20379G>A | |
| NG_006669.2:g.22927G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.374+120G>A | NP_065202.2:n.374+120G>A |
| NM_020469.3:c.374+120G>A | NP_065202.2:n.374+120G>A |
| ENST00000453660.3:n.385+120G>A | |
| ENST00000453660.4:n.403+120G>A | |
| ENST00000538324.2:c.371+120G>A | ENSP00000483018.1:n.371+120G>A |
| ENST00000611156.4:c.371+120G>A | ENSP00000483265.1:n.371+120G>A |
| ENST00000647353.1:n.54-6137G>A | |
| ENST00000651471.1:n.329+753G>A | |
| ENST00000679909.1:c.28+17873G>A | ENSP00000506089.1:n.28+17873G>A |