ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97721672C>G , CM000663.2:g.97721672C>G | GRCh38 |
| NC_000001.10:g.98187228C>G , CM000663.1:g.98187228C>G | GRCh37 |
| NC_000001.9:g.97959816C>G | NCBI36 |
| NG_008807.2:g.204388G>C , LRG_722:g.204388G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.322-1G>C MANE Select | ENSP00000359211.3:n.322-1G>C | |
| ENST00000306031.5:c.322-1G>C | ENSP00000307107.5:n.322-1G>C | |
| ENST00000370192.7:c.322-1G>C | ENSP00000359211.3:n.322-1G>C | |
| NM_000110.3:c.322-1G>C , LRG_722t1:c.322-1G>C | NP_000101.2:n.322-1G>C | |
| NM_001160301.1:c.322-1G>C , LRG_722t2:c.322-1G>C | NP_001153773.1:n.322-1G>C | |
| XM_005270562.3:c.322-1G>C | XP_005270619.2:n.322-1G>C | |
| XM_006710397.2:c.322-1G>C | XP_006710460.1:n.322-1G>C | |
| XM_006710397.3:c.322-1G>C | XP_006710460.1:n.322-1G>C | |
| XM_017000507.1:c.211-1G>C | XP_016855996.1:n.211-1G>C | |
| XM_017000508.2:c.-389-1G>C | XP_016855997.1:n.-389-1G>C | |
| XM_017000509.2:c.-287-1G>C | XP_016855998.1:n.-287-1G>C | |
| XM_017000510.1:c.-287-1G>C | XP_016855999.1:n.-287-1G>C | |
| XR_001737014.1:n.459-1G>C | ||
| NM_000110.4:c.322-1G>C MANE Select | NP_000101.2:n.322-1G>C |