Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1410358T>C , CM000672.2:g.1410358T>C | GRCh38 |
| NC_000010.10:g.1452553T>C , CM000672.1:g.1452553T>C | GRCh37 |
| NC_000010.9:g.1442553T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381312.6:c.101-31198A>G MANE Select | ENSP00000370713.1:n.101-31198A>G | |
| ENST00000381312.5:c.101-31198A>G | ENSP00000370713.1:n.101-31198A>G | |
| NM_018702.3:c.101-31198A>G | NP_061172.1:n.101-31198A>G | |
| XR_930468.1:n.449-31198A>G | ||
| NM_018702.4:c.101-31198A>G MANE Select | NP_061172.1:n.101-31198A>G |