dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172445659G>C , CM000665.2:g.172445659G>C | GRCh38 |
| NC_000003.11:g.172163449G>C , CM000665.1:g.172163449G>C | GRCh37 |
| NC_000003.10:g.173646143G>C | NCBI36 |
| NG_021159.1:g.7798C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.797-194C>G MANE Select | ENSP00000241256.2:n.797-194C>G | |
| ENST00000241256.2:c.797-194C>G | ENSP00000241256.2:n.797-194C>G | |
| NM_198407.2:c.797-194C>G MANE Select | NP_940799.1:n.797-194C>G |