Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859229A>C , CM000664.2:g.135859229A>C | GRCh38 |
| NC_000002.11:g.136616799A>C , CM000664.1:g.136616799A>C | GRCh37 |
| NC_000002.10:g.136333269A>C | NCBI36 |
| NG_008104.2:g.941T>G , LRG_338:g.941T>G | |
| NG_008958.1:g.22213T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1362+72T>G MANE Select | ENSP00000264156.2:n.1362+72T>G | |
| ENST00000264156.2:c.1362+72T>G | ENSP00000264156.2:n.1362+72T>G | |
| ENST00000492091.1:n.181+3378T>G | ||
| NM_005915.5:c.1362+72T>G | NP_005906.2:n.1362+72T>G | |
| NM_005915.6:c.1362+72T>G MANE Select | NP_005906.2:n.1362+72T>G |