Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34581191T>C , CM000679.2:g.34581191T>C | GRCh38 |
| NC_000017.10:g.32908210T>C , CM000679.1:g.32908210T>C | GRCh37 |
| NC_000017.9:g.29932323T>C | NCBI36 |
| NG_054730.1:g.5443T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321639.7:c.67+48T>C | ENSP00000316532.5:n.67+48T>C | |
| ENST00000631683.2:c.67+48T>C MANE Select | ENSP00000487800.2:n.67+48T>C | |
| ENST00000321639.6:c.67+48T>C | ENSP00000316532.5:n.67+48T>C | |
| ENST00000631683.1:c.67+48T>C | ENSP00000487800.1:n.67+48T>C | |
| NM_001304438.1:c.67+48T>C | NP_001291367.1:n.67+48T>C | |
| NM_001304438.2:c.67+48T>C MANE Select | NP_001291367.1:n.67+48T>C |