Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255417T>G , CM000671.2:g.133255417T>G | GRCh38 |
| NC_000009.11:g.136130804T>G , CM000671.1:g.136130804T>G | GRCh37 |
| NC_000009.10:g.135120625T>G | NCBI36 |
| NG_006669.1:g.22251A>C | |
| NG_006669.2:g.24799A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1343A>C | ||
| ENST00000647353.1:n.54-4265A>C | ||
| ENST00000679909.1:c.28+19745A>C | ENSP00000506089.1:n.28+19745A>C | |
| ENST00000453660.3:n.1325A>C | ||
| ENST00000611156.4:c.*249A>C | ENSP00000483265.1:n.*249A>C | |
| NM_020469.2:c.*249A>C | NP_065202.2:n.*249A>C | |
| NM_020469.3:c.*249A>C | NP_065202.2:n.*249A>C |