Linked Data
ClinVar Variation Id:
317113
dbSNP Id:
rs202172221
ExAC:
15:74488344 G / A
gnomAD v2:
15-74488344-G-A
gnomAD v3:
15-74196003-G-A
gnomAD v4:
15-74196003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74196003G>A , CM000677.2:g.74196003G>A | GRCh38 |
| NC_000015.9:g.74488344G>A , CM000677.1:g.74488344G>A | GRCh37 |
| NC_000015.8:g.72275397G>A | NCBI36 |
| NG_009207.1:g.18028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395105.9:c.406+5C>T MANE Select | ENSP00000378537.4:n.406+5C>T | |
| ENST00000323940.9:c.406+5C>T | ENSP00000326085.5:n.406+5C>T | |
| ENST00000395105.8:c.406+5C>T | ENSP00000378537.4:n.406+5C>T | |
| ENST00000416286.7:c.406+5C>T | ENSP00000400403.3:n.406+5C>T | |
| ENST00000423167.6:c.379+5C>T | ENSP00000413012.2:n.379+5C>T | |
| ENST00000432245.6:c.406+5C>T | ENSP00000407176.2:n.406+5C>T | |
| ENST00000449139.6:c.406+5C>T | ENSP00000410221.2:n.406+5C>T | |
| ENST00000535552.5:c.517+5C>T | ENSP00000440238.1:n.517+5C>T | |
| ENST00000545137.5:n.282+5C>T | ||
| ENST00000563965.5:c.523+5C>T | ENSP00000456609.1:n.523+5C>T | |
| ENST00000569936.5:c.406+5C>T | ENSP00000461799.1:n.406+5C>T | |
| ENST00000573214.5:n.486+5C>T | ||
| ENST00000573456.5:n.690+5C>T | ||
| ENST00000573724.1:n.252-328C>T | ||
| ENST00000574278.5:c.451+5C>T | ENSP00000458827.1:n.451+5C>T | |
| ENST00000574439.5:n.678+5C>T | ||
| ENST00000616000.4:c.406+5C>T | ENSP00000479112.1:n.406+5C>T | |
| NM_001142617.1:c.406+5C>T | NP_001136089.1:n.406+5C>T | |
| NM_001142618.1:c.406+5C>T | NP_001136090.1:n.406+5C>T | |
| NM_001142619.1:c.379+5C>T | NP_001136091.1:n.379+5C>T | |
| NM_001142620.1:c.406+5C>T | NP_001136092.1:n.406+5C>T | |
| NM_001199040.1:c.517+5C>T | NP_001185969.1:n.517+5C>T | |
| NM_001199041.1:c.451+5C>T | NP_001185970.1:n.451+5C>T | |
| NM_001199042.1:c.523+5C>T | NP_001185971.1:n.523+5C>T | |
| NM_022369.3:c.406+5C>T | NP_071764.3:n.406+5C>T | |
| XM_011521883.1:c.406+5C>T | XP_011520185.1:n.406+5C>T | |
| XM_011521884.1:c.217+5C>T | XP_011520186.1:n.217+5C>T | |
| XM_011521885.1:c.523+5C>T | XP_011520187.1:n.523+5C>T | |
| XR_931877.1:n.529+5C>T | ||
| XM_011521885.2:c.523+5C>T | XP_011520187.1:n.523+5C>T | |
| XM_017022478.1:c.454+5C>T | XP_016877967.1:n.454+5C>T | |
| XM_017022479.1:c.406+5C>T | XP_016877968.1:n.406+5C>T | |
| XM_017022480.1:c.217+5C>T | XP_016877969.1:n.217+5C>T | |
| XR_931877.2:n.529+5C>T | ||
| NM_022369.4:c.406+5C>T MANE Select | NP_071764.3:n.406+5C>T | |
| NM_001142617.2:c.406+5C>T | NP_001136089.1:n.406+5C>T | |
| NM_001142619.2:c.379+5C>T | NP_001136091.1:n.379+5C>T | |
| NM_001199042.2:c.523+5C>T | NP_001185971.1:n.523+5C>T | |
| NM_001142618.2:c.406+5C>T | NP_001136090.1:n.406+5C>T | |
| NM_001142620.2:c.406+5C>T | NP_001136092.1:n.406+5C>T | |
| NM_001199040.2:c.517+5C>T | NP_001185969.1:n.517+5C>T | |
| NM_001199041.2:c.451+5C>T | NP_001185970.1:n.451+5C>T |