Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27797467A>G , CM000679.2:g.27797467A>G | GRCh38 |
| NC_000017.10:g.26124493A>G , CM000679.1:g.26124493A>G | GRCh37 |
| NC_000017.9:g.23148620A>G | NCBI36 |
| NG_011470.1:g.8063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697337.1:c.110+1233T>C | ENSP00000513259.1:n.110+1233T>C | |
| ENST00000313735.11:c.110+1233T>C MANE Select | ENSP00000327251.6:n.110+1233T>C | |
| ENST00000313735.10:c.110+1233T>C | ENSP00000327251.6:n.110+1233T>C | |
| ENST00000621962.1:c.110+1233T>C | ENSP00000482291.1:n.110+1233T>C | |
| NM_000625.4:c.110+1233T>C MANE Select | NP_000616.3:n.110+1233T>C | |
| XM_011524859.1:c.110+1233T>C | XP_011523161.1:n.110+1233T>C | |
| XM_011524861.1:c.110+1233T>C | XP_011523163.1:n.110+1233T>C |