Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255519T>G , CM000671.2:g.133255519T>G | GRCh38 |
| NC_000009.11:g.136130906T>G , CM000671.1:g.136130906T>G | GRCh37 |
| NC_000009.10:g.135120727T>G | NCBI36 |
| NG_006669.1:g.22149A>C | |
| NG_006669.2:g.24697A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1241A>C | ||
| ENST00000647353.1:n.54-4367A>C | ||
| ENST00000679909.1:c.28+19643A>C | ENSP00000506089.1:n.28+19643A>C | |
| ENST00000453660.3:n.1223A>C | ||
| ENST00000611156.4:c.*147A>C | ENSP00000483265.1:n.*147A>C | |
| NM_020469.2:c.*147A>C | NP_065202.2:n.*147A>C | |
| NM_020469.3:c.*147A>C | NP_065202.2:n.*147A>C |