Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632704C>G , CM000670.2:g.86632704C>G | GRCh38 |
| NC_000008.10:g.87644932C>G , CM000670.1:g.87644932C>G | GRCh37 |
| NC_000008.9:g.87714048C>G | NCBI36 |
| NG_016980.1:g.115972G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1320+48G>C MANE Select | ENSP00000316605.5:n.1320+48G>C | |
| ENST00000681546.1:n.1140+48G>C | ||
| ENST00000681746.1:c.1320+48G>C | ENSP00000505959.1:n.1320+48G>C | |
| ENST00000320005.5:c.1320+48G>C | ENSP00000316605.5:n.1320+48G>C | |
| NM_019098.4:c.1320+48G>C | NP_061971.3:n.1320+48G>C | |
| XM_011517138.1:c.906+48G>C | XP_011515440.1:n.906+48G>C | |
| XM_011517138.2:c.906+48G>C | XP_011515440.1:n.906+48G>C | |
| NM_019098.5:c.1320+48G>C MANE Select | NP_061971.3:n.1320+48G>C |