gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.112465699G>C , CM000669.2:g.112465699G>C | GRCh38 |
| NC_000007.13:g.112105754G>C , CM000669.1:g.112105754G>C | GRCh37 |
| NC_000007.12:g.111892990G>C | NCBI36 |
| NG_027799.1:g.47556G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403825.8:c.907-2282G>C MANE Select | ENSP00000384477.3:n.907-2282G>C | |
| ENST00000674887.1:c.*31G>C | ENSP00000502760.1:n.*31G>C | |
| ENST00000674915.1:c.907-2282G>C | ENSP00000502525.1:n.907-2282G>C | |
| ENST00000675041.1:c.*70G>C | ENSP00000501576.1:n.*70G>C | |
| ENST00000675578.1:c.907-2282G>C | ENSP00000502336.1:n.907-2282G>C | |
| ENST00000675717.1:c.*425-2282G>C | ENSP00000501686.1:n.*425-2282G>C | |
| ENST00000675905.1:c.907-2282G>C | ENSP00000502605.1:n.907-2282G>C | |
| ENST00000676282.1:c.907-2282G>C | ENSP00000501830.1:n.907-2282G>C | |
| ENST00000005558.8:c.907-2282G>C | ENSP00000005558.4:n.907-2282G>C | |
| ENST00000403825.7:c.907-2282G>C | ENSP00000384477.3:n.907-2282G>C | |
| ENST00000421296.1:c.112-2282G>C | ENSP00000403203.1:n.112-2282G>C | |
| ENST00000466459.5:n.432-2282G>C | ||
| ENST00000535603.5:c.757-2282G>C | ENSP00000439188.1:n.757-2282G>C | |
| ENST00000621379.4:c.757-2282G>C | ENSP00000483255.1:n.757-2282G>C | |
| NM_001007245.2:c.907-2282G>C | NP_001007246.1:n.907-2282G>C | |
| NM_001197079.1:c.757-2282G>C | NP_001184008.1:n.757-2282G>C | |
| NM_001197080.1:c.757-2282G>C | NP_001184009.1:n.757-2282G>C | |
| NM_001550.3:c.907-2282G>C | NP_001541.2:n.907-2282G>C | |
| NR_120333.1:n.930-2282G>C | ||
| XM_011516142.1:c.907-125G>C | XP_011514444.1:n.907-125G>C | |
| XM_011516143.1:c.757-125G>C | XP_011514445.1:n.757-125G>C | |
| XR_927462.1:n.2903-125G>C | ||
| XR_927463.1:n.2794-2282G>C | ||
| XM_011516142.3:c.907-125G>C | XP_011514444.1:n.907-125G>C | |
| XM_011516143.3:c.757-125G>C | XP_011514445.1:n.757-125G>C | |
| XR_001744703.2:n.1133-2282G>C | ||
| XR_001744704.2:n.1193G>C | ||
| XR_927462.3:n.1133-125G>C | ||
| XR_927463.3:n.1024-2282G>C | ||
| NM_001007245.3:c.907-2282G>C | NP_001007246.1:n.907-2282G>C | |
| NM_001197079.2:c.757-2282G>C | NP_001184008.1:n.757-2282G>C | |
| NM_001197080.2:c.757-2282G>C | NP_001184009.1:n.757-2282G>C | |
| NM_001550.4:c.907-2282G>C MANE Select | NP_001541.2:n.907-2282G>C |