dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40098239C>G , CM000679.2:g.40098239C>G | GRCh38 |
| NC_000017.10:g.38254492C>G , CM000679.1:g.38254492C>G | GRCh37 |
| NC_000017.9:g.35508018C>G | NCBI36 |
| NG_033084.1:g.7487G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.32-836G>C MANE Select | ENSP00000246672.3:n.32-836G>C | |
| ENST00000246672.3:c.32-836G>C | ENSP00000246672.3:n.32-836G>C | |
| NM_021724.4:c.32-836G>C | NP_068370.1:n.32-836G>C | |
| NM_021724.5:c.32-836G>C MANE Select | NP_068370.1:n.32-836G>C |