dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37532533G>C , CM000665.2:g.37532533G>C | GRCh38 |
| NC_000003.11:g.37574024G>C , CM000665.1:g.37574024G>C | GRCh37 |
| NC_000003.10:g.37549028G>C | NCBI36 |
| NG_016166.1:g.85212G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264741.10:c.1374-781G>C MANE Select | ENSP00000264741.5:n.1374-781G>C | |
| ENST00000264741.9:c.1374-781G>C | ENSP00000264741.5:n.1374-781G>C | |
| ENST00000422441.5:c.1374-781G>C | ENSP00000397258.1:n.1374-781G>C | |
| NM_002207.2:c.1374-781G>C | NP_002198.2:n.1374-781G>C | |
| NM_002207.3:c.1374-781G>C MANE Select | NP_002198.2:n.1374-781G>C |