Linked Data
dbSNP Id:
rs10838738
gnomAD v2:
11-47663049-A-G
gnomAD v3:
11-47641497-A-G
gnomAD v4:
11-47641497-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47641497A>G , CM000673.2:g.47641497A>G | GRCh38 |
| NC_000011.9:g.47663049A>G , CM000673.1:g.47663049A>G | GRCh37 |
| NC_000011.8:g.47619625A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530428.2:c.87+882T>C | ENSP00000432043.2:n.87+882T>C | |
| ENST00000533571.2:n.134+904T>C | ||
| ENST00000302503.8:c.87+882T>C MANE Select | ENSP00000303222.3:n.87+882T>C | |
| ENST00000302503.7:c.87+882T>C | ENSP00000303222.3:n.87+882T>C | |
| ENST00000530428.1:c.87+882T>C | ENSP00000432043.1:n.87+882T>C | |
| ENST00000533571.1:n.195+904T>C | ||
| ENST00000539759.5:n.74+882T>C | ||
| NM_014342.3:c.87+882T>C | NP_055157.1:n.87+882T>C | |
| XM_006718172.2:c.87+882T>C | XP_006718235.1:n.87+882T>C | |
| XM_011519959.1:c.87+882T>C | XP_011518261.1:n.87+882T>C | |
| XM_011519960.1:c.87+882T>C | XP_011518262.1:n.87+882T>C | |
| XM_011519961.1:c.87+882T>C | XP_011518263.1:n.87+882T>C | |
| XM_011519962.1:c.87+882T>C | XP_011518264.1:n.87+882T>C | |
| XM_011519963.1:c.-295+904T>C | XP_011518265.1:n.-295+904T>C | |
| NM_001317231.1:c.87+882T>C | NP_001304160.1:n.87+882T>C | |
| NM_001317232.1:c.87+882T>C | NP_001304161.1:n.87+882T>C | |
| NM_001317233.1:c.-300+882T>C | NP_001304162.1:n.-300+882T>C | |
| XM_011519959.2:c.87+882T>C | XP_011518261.1:n.87+882T>C | |
| XM_011519960.3:c.87+882T>C | XP_011518262.1:n.87+882T>C | |
| XM_011519961.2:c.87+882T>C | XP_011518263.1:n.87+882T>C | |
| XM_017017462.2:c.87+882T>C | XP_016872951.1:n.87+882T>C | |
| NM_014342.4:c.87+882T>C MANE Select | NP_055157.1:n.87+882T>C | |
| NM_001317231.2:c.87+882T>C | NP_001304160.1:n.87+882T>C | |
| NM_001317232.2:c.87+882T>C | NP_001304161.1:n.87+882T>C | |
| NM_001317233.2:c.-300+882T>C | NP_001304162.1:n.-300+882T>C |