ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27788979G>C , CM000670.2:g.27788979G>C | GRCh38 |
| NC_000008.10:g.27646496G>C , CM000670.1:g.27646496G>C | GRCh37 |
| NC_000008.9:g.27702415G>C | NCBI36 |
| NG_008117.1:g.19439G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.1263+1G>C MANE Select | ENSP00000306999.8:n.1263+1G>C | |
| ENST00000305188.12:c.1263+1G>C | ENSP00000306999.8:n.1263+1G>C | |
| ENST00000397418.4:c.207+1G>C | ENSP00000380563.2:n.207+1G>C | |
| ENST00000518262.5:c.377+1G>C | ||
| ENST00000522378.5:c.*238+1G>C | ENSP00000428928.1:n.*238+1G>C | |
| NM_001017420.2:c.1263+1G>C | NP_001017420.1:n.1263+1G>C | |
| XM_011544421.1:c.1263+1G>C | XP_011542723.1:n.1263+1G>C | |
| XM_011544422.1:c.1263+1G>C | XP_011542724.1:n.1263+1G>C | |
| XR_949378.1:n.1347+1G>C | ||
| XR_949379.1:n.1347+1G>C | ||
| XM_011544421.2:c.1263+1G>C | XP_011542723.1:n.1263+1G>C | |
| XM_011544422.2:c.1263+1G>C | XP_011542724.1:n.1263+1G>C | |
| XR_949378.3:n.1347+1G>C | ||
| NM_001017420.3:c.1263+1G>C MANE Select | NP_001017420.1:n.1263+1G>C |