Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255365T>C , CM000671.2:g.133255365T>C | GRCh38 |
| NC_000009.11:g.136130752T>C , CM000671.1:g.136130752T>C | GRCh37 |
| NC_000009.10:g.135120573T>C | NCBI36 |
| NG_006669.1:g.22303A>G | |
| NG_006669.2:g.24851A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1395A>G | ||
| ENST00000647353.1:n.54-4213A>G | ||
| ENST00000679909.1:c.28+19797A>G | ENSP00000506089.1:n.28+19797A>G | |
| ENST00000453660.3:n.1377A>G | ||
| ENST00000611156.4:c.*301A>G | ENSP00000483265.1:n.*301A>G | |
| NM_020469.2:c.*301A>G | NP_065202.2:n.*301A>G | |
| NM_020469.3:c.*301A>G | NP_065202.2:n.*301A>G |