Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144444029G>C , CM000670.2:g.144444029G>C | GRCh38 |
| NC_000008.10:g.145669412G>C , CM000670.1:g.145669412G>C | GRCh37 |
| NC_000008.9:g.145640220G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013432.5:c.122-5C>G MANE Select | NP_038460.4:n.122-5C>G |
| ENST00000409379.8:c.122-5C>G MANE Select | ENSP00000386239.3:n.122-5C>G |
| NM_013432.4:c.122-5C>G | NP_038460.4:n.122-5C>G |
| ENST00000409379.7:c.122-5C>G | ENSP00000386239.3:n.122-5C>G |
| XM_011517047.1:c.122-5C>G | XP_011515349.1:n.122-5C>G |
| XM_011517050.1:c.122-5C>G | XP_011515352.1:n.122-5C>G |
| XM_011517050.2:c.122-5C>G | XP_011515352.1:n.122-5C>G |