dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63406212T>C , CM000673.2:g.63406212T>C | GRCh38 |
| NC_000011.9:g.63173684T>C , CM000673.1:g.63173684T>C | GRCh37 |
| NC_000011.8:g.62930260T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279178.4:c.1074-285T>C MANE Select | ENSP00000279178.3:n.1074-285T>C | |
| ENST00000279178.3:c.1074-285T>C | ENSP00000279178.3:n.1074-285T>C | |
| ENST00000536333.5:c.*202-285T>C | ENSP00000440206.1:n.*202-285T>C | |
| NM_080866.2:c.1074-285T>C | NP_543142.2:n.1074-285T>C | |
| XM_017017159.2:c.1074-285T>C | XP_016872648.1:n.1074-285T>C | |
| XM_017017160.1:c.381-285T>C | XP_016872649.1:n.381-285T>C | |
| NM_080866.3:c.1074-285T>C MANE Select | NP_543142.2:n.1074-285T>C |