Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48883996C>G , CM000665.2:g.48883996C>G | GRCh38 |
| NC_000003.11:g.48921429C>G , CM000665.1:g.48921429C>G | GRCh37 |
| NC_000003.10:g.48896433C>G | NCBI36 |
| NG_008171.1:g.19901G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.326+1G>C MANE Select | NP_000378.1:n.326+1G>C |
| ENST00000319017.5:c.326+1G>C MANE Select | ENSP00000326305.4:n.326+1G>C |
| NM_000387.5:c.326+1G>C | NP_000378.1:n.326+1G>C |
| ENST00000319017.4:c.326+1G>C | ENSP00000326305.4:n.326+1G>C |
| ENST00000430379.5:c.198+7984G>C | ENSP00000388986.1:n.198+7984G>C |
| ENST00000440964.1:c.*156+1G>C | ENSP00000388563.1:n.*156+1G>C |
| XM_006713327.1:c.326+1G>C | XP_006713390.1:n.326+1G>C |