dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98076353C>G , CM000670.2:g.98076353C>G | GRCh38 |
| NC_000008.10:g.99088581C>G , CM000670.1:g.99088581C>G | GRCh37 |
| NC_000008.9:g.99157757C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318528.8:c.58+11626C>G MANE Select | ENSP00000315614.3:n.58+11626C>G | |
| ENST00000318528.7:c.58+11626C>G | ENSP00000315614.3:n.58+11626C>G | |
| ENST00000545282.1:c.58+11626C>G | ENSP00000440297.1:n.58+11626C>G | |
| NM_001170806.1:c.58+11626C>G | NP_001164277.1:n.58+11626C>G | |
| NM_173549.2:c.58+11626C>G | NP_775820.2:n.58+11626C>G | |
| NM_173549.3:c.58+11626C>G MANE Select | NP_775820.2:n.58+11626C>G | |
| NM_001170806.2:c.58+11626C>G | NP_001164277.1:n.58+11626C>G |