Linked Data
ClinVar Variation Id:
95654
dbSNP Id:
rs80090788
ExAC:
15:49031494 T / A
gnomAD v2:
15-49031494-T-A
gnomAD v3:
15-48739297-T-A
gnomAD v4:
15-48739297-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48739297T>A , CM000677.2:g.48739297T>A | GRCh38 |
| NC_000015.9:g.49031494T>A , CM000677.1:g.49031494T>A | GRCh37 |
| NC_000015.8:g.46818786T>A | NCBI36 |
| NG_027518.1:g.76850A>T | |
| NG_027518.2:g.76850A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380950.7:c.4094-9A>T MANE Select | ENSP00000370337.2:n.4094-9A>T | |
| ENST00000380950.6:c.4094-9A>T | ENSP00000370337.2:n.4094-9A>T | |
| ENST00000399334.7:c.3926-9A>T | ENSP00000382271.3:n.3926-9A>T | |
| ENST00000561245.1:c.142+2334A>T | ENSP00000453591.1:n.142+2334A>T | |
| NM_001194998.1:c.4094-9A>T | NP_001181927.1:n.4094-9A>T | |
| NM_014985.3:c.3926-9A>T | NP_055800.2:n.3926-9A>T | |
| XM_006720437.2:c.4094-9A>T | XP_006720500.1:n.4094-9A>T | |
| XM_011521373.1:c.4064-9A>T | XP_011519675.1:n.4064-9A>T | |
| XM_011521374.1:c.4093+2304A>T | XP_011519676.1:n.4093+2304A>T | |
| XM_011521375.1:c.4064-2076A>T | XP_011519677.1:n.4064-2076A>T | |
| XM_011521376.1:c.4063+2334A>T | XP_011519678.1:n.4063+2334A>T | |
| XM_011521378.1:c.4063+2334A>T | XP_011519680.1:n.4063+2334A>T | |
| XM_011521379.1:c.3990-9A>T | XP_011519681.1:n.3990-9A>T | |
| XM_011521380.1:c.2135-9A>T | XP_011519682.1:n.2135-9A>T | |
| XM_011521381.1:c.2129-9A>T | XP_011519683.1:n.2129-9A>T | |
| XR_931769.1:n.5029-2076A>T | ||
| XR_931770.1:n.5058+2304A>T | ||
| XR_931771.1:n.5058+2304A>T | ||
| XR_931772.1:n.5058+2304A>T | ||
| XR_931773.1:n.5058+2304A>T | ||
| XR_931774.1:n.5058+2304A>T | ||
| XR_931775.1:n.5028+2334A>T | ||
| XM_006720437.3:c.4094-9A>T | XP_006720500.1:n.4094-9A>T | |
| XM_011521373.3:c.4064-9A>T | XP_011519675.1:n.4064-9A>T | |
| XM_011521374.3:c.4093+2304A>T | XP_011519676.1:n.4093+2304A>T | |
| XM_011521375.3:c.4064-2076A>T | XP_011519677.1:n.4064-2076A>T | |
| XM_011521378.3:c.4063+2334A>T | XP_011519680.1:n.4063+2334A>T | |
| XM_011521379.3:c.3990-9A>T | XP_011519681.1:n.3990-9A>T | |
| XM_011521381.2:c.2129-9A>T | XP_011519683.1:n.2129-9A>T | |
| XM_017022015.1:c.2129-9A>T | XP_016877504.1:n.2129-9A>T | |
| XM_024449875.1:c.3896-9A>T | XP_024305643.1:n.3896-9A>T | |
| XR_001751153.2:n.5014+2334A>T | ||
| XR_931769.3:n.5015-2076A>T | ||
| XR_931770.3:n.5044+2304A>T | ||
| XR_931775.3:n.5014+2334A>T | ||
| NM_001194998.2:c.4094-9A>T MANE Select | NP_001181927.1:n.4094-9A>T | |
| NM_014985.4:c.3926-9A>T | NP_055800.2:n.3926-9A>T |