Linked Data
ClinVar Variation Id:
1922219
ClinVar RCV Id:
RCV002613626
dbSNP Id:
rs974837433
gnomAD v3:
11-9141924-C-A
gnomAD v4:
11-9141924-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141924C>A , CM000673.2:g.9141924C>A | GRCh38 |
| NC_000011.9:g.9163471C>A , CM000673.1:g.9163471C>A | GRCh37 |
| NC_000011.8:g.9120047C>A | NCBI36 |
| NG_053019.1:g.128412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3680+16G>T MANE Select | ENSP00000328524.3:n.3680+16G>T | |
| ENST00000525784.6:n.1542+16G>T | ||
| ENST00000530780.2:c.*3506+16G>T | ENSP00000433925.1:n.*3506+16G>T | |
| ENST00000531747.2:n.3351+16G>T | ||
| ENST00000679446.1:n.3617G>T | ||
| ENST00000679458.1:n.5081+16G>T | ||
| ENST00000679460.1:n.4742+16G>T | ||
| ENST00000679568.1:c.3680+16G>T | ENSP00000505860.1:n.3680+16G>T | |
| ENST00000679745.1:n.4185+16G>T | ||
| ENST00000679773.1:n.2841+16G>T | ||
| ENST00000679926.1:n.4982+16G>T | ||
| ENST00000679999.1:c.*737+16G>T | ENSP00000505198.1:n.*737+16G>T | |
| ENST00000680252.1:c.3347+16G>T | ||
| ENST00000680294.1:c.3473+16G>T | ENSP00000506113.1:n.3473+16G>T | |
| ENST00000680358.1:n.2979+16G>T | ||
| ENST00000680470.1:c.*1461+16G>T | ENSP00000505975.1:n.*1461+16G>T | |
| ENST00000680554.1:c.*213+16G>T | ENSP00000505621.1:n.*213+16G>T | |
| ENST00000680576.1:n.5172G>T | ||
| ENST00000680599.1:n.3721+16G>T | ||
| ENST00000680742.1:c.*179+50G>T | ENSP00000505206.1:n.*179+50G>T | |
| ENST00000680791.1:n.2564+16G>T | ||
| ENST00000680885.1:n.5382+16G>T | ||
| ENST00000681158.1:c.3264+16G>T | ||
| ENST00000681203.1:c.3608+16G>T | ENSP00000506456.1:n.3608+16G>T | |
| ENST00000681371.1:n.3552+16G>T | ||
| ENST00000681425.1:n.4158+16G>T | ||
| ENST00000681639.1:n.1959+16G>T | ||
| ENST00000328194.7:c.3680+16G>T | ENSP00000328524.3:n.3680+16G>T | |
| ENST00000525784.5:c.616+16G>T | ||
| ENST00000527700.5:n.3242+16G>T | ||
| ENST00000528725.5:c.376+16G>T | ||
| ENST00000529977.5:n.1581+16G>T | ||
| ENST00000530044.5:c.3646+50G>T | ENSP00000435866.1:n.3646+50G>T | |
| ENST00000533737.5:c.343+16G>T | ||
| NM_001243254.1:c.3646+50G>T | NP_001230183.1:n.3646+50G>T | |
| NM_015213.3:c.3680+16G>T | NP_056028.2:n.3680+16G>T | |
| XM_005252832.1:c.3680+16G>T | XP_005252889.1:n.3680+16G>T | |
| XM_011519952.1:c.3646+50G>T | XP_011518254.1:n.3646+50G>T | |
| XM_011519953.1:c.1778+16G>T | XP_011518255.1:n.1778+16G>T | |
| XR_242782.2:n.3862+16G>T | ||
| XR_930851.1:n.3828+50G>T | ||
| NM_001348749.1:c.3608+16G>T | NP_001335678.1:n.3608+16G>T | |
| NM_001348750.1:c.3392+16G>T | NP_001335679.1:n.3392+16G>T | |
| NR_145966.2:n.3854+16G>T | ||
| NM_015213.4:c.3680+16G>T MANE Select | NP_056028.2:n.3680+16G>T | |
| NM_001243254.2:c.3646+50G>T | NP_001230183.1:n.3646+50G>T | |
| NM_001348749.2:c.3608+16G>T | NP_001335678.1:n.3608+16G>T | |
| NM_001348750.2:c.3392+16G>T | NP_001335679.1:n.3392+16G>T |