Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9102731A>G , CM000680.2:g.9102731A>G | GRCh38 |
| NC_000018.9:g.9102729A>G , CM000680.1:g.9102729A>G | GRCh37 |
| NC_000018.8:g.9092729A>G | NCBI36 |
| NG_013355.1:g.5102A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021074.5:c.-13A>G MANE Select | NP_066552.2:n.-13A>G |
| ENST00000318388.11:c.-13A>G MANE Select | ENSP00000327268.6:n.-13A>G |
| NM_021074.4:c.-13A>G | NP_066552.2:n.-13A>G |
| ENST00000318388.10:c.-13A>G | ENSP00000327268.6:n.-13A>G |
| ENST00000497577.2:c.-13A>G | ENSP00000464504.1:n.-13A>G |
| ENST00000577703.1:c.-13A>G | ENSP00000461911.1:n.-13A>G |
| XR_002958175.1:n.90A>G | |
| XR_243808.1:n.90A>G | |
| XR_243808.3:n.5A>G |