Linked Data
ClinVar Variation Id:
2925976
ClinVar RCV Id:
RCV003786262
dbSNP Id:
rs1232649308
gnomAD v2:
4-39206887-G-C
gnomAD v4:
4-39205267-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39205267G>C , CM000666.2:g.39205267G>C | GRCh38 |
| NC_000004.11:g.39206887G>C , CM000666.1:g.39206887G>C | GRCh37 |
| NC_000004.10:g.38883282G>C | NCBI36 |
| NG_031813.1:g.27864G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.716+1G>C MANE Select | ENSP00000382717.3:n.716+1G>C | |
| ENST00000399820.7:c.716+1G>C | ENSP00000382717.3:n.716+1G>C | |
| ENST00000503697.5:c.*184+1G>C | ENSP00000423706.1:n.*184+1G>C | |
| ENST00000505055.5:c.*297+1G>C | ENSP00000425949.1:n.*297+1G>C | |
| ENST00000506503.1:c.716+1G>C | ENSP00000423491.1:n.716+1G>C | |
| ENST00000506869.5:c.*297+1G>C | ENSP00000424319.1:n.*297+1G>C | |
| ENST00000511729.5:n.40+22704G>C | ||
| ENST00000512448.1:n.310+1G>C | ||
| NM_025132.3:c.716+1G>C | NP_079408.3:n.716+1G>C | |
| XM_011513724.1:c.716+1G>C | XP_011512026.1:n.716+1G>C | |
| XM_011513725.1:c.650+1G>C | XP_011512027.1:n.650+1G>C | |
| XM_011513726.1:c.236+1G>C | XP_011512028.1:n.236+1G>C | |
| XM_011513727.1:c.236+1G>C | XP_011512029.1:n.236+1G>C | |
| XM_011513728.1:c.236+1G>C | XP_011512030.1:n.236+1G>C | |
| XM_011513729.1:c.716+1G>C | XP_011512031.1:n.716+1G>C | |
| XR_925155.1:n.780+1G>C | ||
| NM_001317924.1:c.236+1G>C | NP_001304853.1:n.236+1G>C | |
| XM_011513725.2:c.650+1G>C | XP_011512027.1:n.650+1G>C | |
| XM_011513726.3:c.236+1G>C | XP_011512028.1:n.236+1G>C | |
| XM_017008501.1:c.236+1G>C | XP_016863990.1:n.236+1G>C | |
| XR_001741306.1:n.780+1G>C | ||
| XR_001741307.1:n.780+1G>C | ||
| XR_001741308.1:n.780+1G>C | ||
| XR_001741309.1:n.780+1G>C | ||
| XR_001741310.1:n.780+1G>C | ||
| XR_001741311.2:n.629+1G>C | ||
| XR_001741312.1:n.780+1G>C | ||
| NM_025132.4:c.716+1G>C MANE Select | NP_079408.3:n.716+1G>C | |
| NM_001317924.2:c.236+1G>C | NP_001304853.1:n.236+1G>C |