dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13596999A>C , CM000685.2:g.13596999A>C | GRCh38 |
| NC_000023.10:g.13615118A>C , CM000685.1:g.13615118A>C | GRCh37 |
| NC_000023.9:g.13525039A>C | NCBI36 |
| NG_015963.1:g.32425A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361306.6:c.280+2071A>C MANE Select | ENSP00000355126.1:n.280+2071A>C | |
| ENST00000361306.5:c.280+2071A>C | ENSP00000355126.1:n.280+2071A>C | |
| ENST00000380602.3:c.280+2071A>C | ENSP00000369976.3:n.280+2071A>C | |
| NM_001167890.1:c.280+2071A>C | NP_001161362.1:n.280+2071A>C | |
| NM_015507.3:c.280+2071A>C | NP_056322.2:n.280+2071A>C | |
| NM_015507.4:c.280+2071A>C MANE Select | NP_056322.2:n.280+2071A>C | |
| NM_001167890.2:c.280+2071A>C | NP_001161362.1:n.280+2071A>C |