Linked Data
dbSNP Id:
rs2601828
gnomAD v2:
16-4103871-T-C
gnomAD v3:
16-4053870-T-C
gnomAD v4:
16-4053870-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4053870T>C , CM000678.2:g.4053870T>C | GRCh38 |
| NC_000016.9:g.4103871T>C , CM000678.1:g.4103871T>C | GRCh37 |
| NC_000016.8:g.4043872T>C | NCBI36 |
| NG_011434.1:g.67316A>G | |
| NG_011434.2:g.67316A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294016.8:c.1694-46312A>G MANE Select | ENSP00000294016.3:n.1694-46312A>G | |
| ENST00000294016.7:c.1694-46312A>G | ENSP00000294016.3:n.1694-46312A>G | |
| ENST00000571467.1:c.176+59880A>G | ||
| ENST00000571889.1:n.156+165A>G | ||
| ENST00000572288.1:c.278-46312A>G | ENSP00000461825.1:n.278-46312A>G | |
| NM_001116.3:c.1694-46312A>G | NP_001107.2:n.1694-46312A>G | |
| XM_005255079.2:c.1694-46312A>G | XP_005255136.1:n.1694-46312A>G | |
| XM_011522353.1:c.1694-46312A>G | XP_011520655.1:n.1694-46312A>G | |
| XM_005255079.3:c.1694-46312A>G | XP_005255136.1:n.1694-46312A>G | |
| XM_011522353.2:c.1694-46312A>G | XP_011520655.1:n.1694-46312A>G | |
| NM_001116.4:c.1694-46312A>G MANE Select | NP_001107.2:n.1694-46312A>G |