Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133260297C>G , CM000671.2:g.133260297C>G | GRCh38 |
| NC_000009.11:g.136135700C>G , CM000671.1:g.136135700C>G | GRCh37 |
| NC_000009.10:g.135125521C>G | NCBI36 |
| NG_006669.1:g.17353G>C | |
| NG_006669.2:g.19918G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.186-431G>C | ||
| ENST00000647353.1:n.54-9145G>C | ||
| ENST00000651471.1:n.191-431G>C | ||
| ENST00000679909.1:c.28+14865G>C | ENSP00000506089.1:n.28+14865G>C | |
| ENST00000453660.3:n.168-431G>C | ||
| ENST00000538324.2:c.156-431G>C | ENSP00000483018.1:n.156-431G>C | |
| ENST00000611156.4:c.156-431G>C | ENSP00000483265.1:n.156-431G>C | |
| NM_020469.2:c.156-431G>C | NP_065202.2:n.156-431G>C | |
| NM_020469.3:c.156-431G>C | NP_065202.2:n.156-431G>C |