dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141653G>C , CM000665.2:g.10141653G>C | GRCh38 |
| NC_000003.11:g.10183337G>C , CM000665.1:g.10183337G>C | GRCh37 |
| NC_000003.10:g.10158337G>C | NCBI36 |
| NG_008212.3:g.5019G>C , LRG_322:g.5019G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256474.2:c.-195G>C | ENSP00000256474.2:n.-195G>C | |
| NM_000551.3:c.-195G>C , LRG_322t1:c.-195G>C | NP_000542.1:n.-195G>C | |
| NM_198156.2:c.-195G>C | NP_937799.1:n.-195G>C | |
| NM_001354723.1:c.-195G>C | NP_001341652.1:n.-195G>C |