dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60171834T>C , CM000673.2:g.60171834T>C | GRCh38 |
| NC_000011.9:g.59939307T>C , CM000673.1:g.59939307T>C | GRCh37 |
| NC_000011.8:g.59695883T>C | NCBI36 |
| NG_033978.1:g.17833A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_152851.2:c.*430A>G | NP_690590.1:n.*430A>G | |
| NM_152852.2:c.*324A>G | NP_690591.1:n.*324A>G | |
| NM_152852.3:c.*324A>G | NP_690591.1:n.*324A>G |