Linked Data
dbSNP Id:
rs10825113
gnomAD v2:
10-55580557-G-A
gnomAD v3:
10-53820797-G-A
gnomAD v4:
10-53820797-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53820797G>A , CM000672.2:g.53820797G>A | GRCh38 |
| NC_000010.10:g.55580557G>A , CM000672.1:g.55580557G>A | GRCh37 |
| NC_000010.9:g.55250563G>A | NCBI36 |
| NG_009191.2:g.985495C>T | |
| NG_009191.3:g.1813386C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+4339C>T | ENSP00000482794.1:n.4409+4339C>T | |
| ENST00000395445.6:c.4388+6596C>T | ENSP00000378832.2:n.4388+6596C>T | |
| ENST00000613657.5:c.4409+4339C>T | ENSP00000482794.1:n.4409+4339C>T | |
| ENST00000642496.1:c.3227-567C>T | ||
| ENST00000644397.2:c.4368-567C>T MANE Select | ENSP00000495195.1:n.4368-567C>T | |
| ENST00000373965.6:c.4373+4339C>T | ENSP00000363076.3:n.4373+4339C>T | |
| ENST00000395438.5:c.4371+6595C>T | ENSP00000378826.2:n.4371+6595C>T | |
| ENST00000395440.5:c.1306-11251C>T | ENSP00000378827.1:n.1306-11251C>T | |
| ENST00000395442.5:c.1099-11251C>T | ENSP00000378829.1:n.1099-11251C>T | |
| ENST00000395445.5:c.4388+6596C>T | ENSP00000378832.2:n.4388+6596C>T | |
| ENST00000395446.5:c.2092-11251C>T | ENSP00000378833.1:n.2092-11251C>T | |
| ENST00000409834.5:c.3206+4339C>T | ENSP00000386693.1:n.3206+4339C>T | |
| ENST00000414367.5:c.*447+6596C>T | ENSP00000412531.1:n.*447+6596C>T | |
| ENST00000414778.5:c.4370+6596C>T | ENSP00000410304.2:n.4370+6596C>T | |
| ENST00000495484.5:c.462-2784C>T | ENSP00000480780.1:n.462-2784C>T | |
| ENST00000612394.4:c.4406+6596C>T | ENSP00000482921.1:n.4406+6596C>T | |
| ENST00000613657.4:c.4409+4339C>T | ENSP00000482794.1:n.4409+4339C>T | |
| ENST00000614895.4:c.4385+6596C>T | ENSP00000478512.1:n.4385+6596C>T | |
| ENST00000616114.4:c.4367+6596C>T | ENSP00000483745.1:n.4367+6596C>T | |
| ENST00000617271.4:c.4373+4339C>T | ENSP00000478076.1:n.4373+4339C>T | |
| ENST00000618301.4:c.594-2784C>T | ENSP00000482780.1:n.594-2784C>T | |
| ENST00000621708.4:c.4388+4339C>T | ENSP00000484454.1:n.4388+4339C>T | |
| NM_001142769.1:c.4409+4339C>T | NP_001136241.1:n.4409+4339C>T | |
| NM_001142770.1:c.4373+4339C>T | NP_001136242.1:n.4373+4339C>T | |
| NM_001142771.1:c.4388+4339C>T | NP_001136243.1:n.4388+4339C>T | |
| NM_001142772.1:c.4373+4339C>T | NP_001136244.1:n.4373+4339C>T | |
| NM_001142769.2:c.4409+4339C>T | NP_001136241.1:n.4409+4339C>T | |
| NM_001142770.2:c.4373+4339C>T | NP_001136242.1:n.4373+4339C>T | |
| NM_001354411.1:c.4388+6596C>T | NP_001341340.1:n.4388+6596C>T | |
| NM_001354420.1:c.4367+6596C>T | NP_001341349.1:n.4367+6596C>T | |
| NM_001354429.1:c.4368-2784C>T | NP_001341358.1:n.4368-2784C>T | |
| XM_017016573.2:c.4388+4339C>T | XP_016872062.1:n.4388+4339C>T | |
| XR_001747192.2:n.7942C>T | ||
| XR_001747193.2:n.7933C>T | ||
| NM_001142769.3:c.4409+4339C>T | NP_001136241.1:n.4409+4339C>T | |
| NM_001142770.3:c.4373+4339C>T | NP_001136242.1:n.4373+4339C>T | |
| NM_001142771.2:c.4388+4339C>T | NP_001136243.1:n.4388+4339C>T | |
| NM_001142772.2:c.4373+4339C>T | NP_001136244.1:n.4373+4339C>T | |
| NM_001354411.2:c.4388+6596C>T | NP_001341340.1:n.4388+6596C>T | |
| NM_001354420.2:c.4367+6596C>T | NP_001341349.1:n.4367+6596C>T | |
| NM_001354429.2:c.4368-2784C>T | NP_001341358.1:n.4368-2784C>T | |
| NM_001384140.1:c.4368-567C>T MANE Select | NP_001371069.1:n.4368-567C>T |