Linked Data
dbSNP Id:
rs13376333
gnomAD v2:
1-154814353-C-T
gnomAD v3:
1-154841877-C-T
gnomAD v4:
1-154841877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154841877C>T , CM000663.2:g.154841877C>T | GRCh38 |
| NC_000001.10:g.154814353C>T , CM000663.1:g.154814353C>T | GRCh37 |
| NC_000001.9:g.153080977C>T | NCBI36 |
| NG_016807.2:g.33402G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271915.9:c.934-19693G>A MANE Select | ENSP00000271915.3:n.934-19693G>A | |
| ENST00000271915.8:c.934-19693G>A | ENSP00000271915.3:n.934-19693G>A | |
| ENST00000358505.2:c.-6-19693G>A | ENSP00000351295.2:n.-6-19693G>A | |
| ENST00000361147.8:c.18+17818G>A | ENSP00000354764.4:n.18+17818G>A | |
| ENST00000618040.4:c.934-19693G>A | ENSP00000481848.1:n.934-19693G>A | |
| NM_001204087.1:c.934-19693G>A | NP_001191016.1:n.934-19693G>A | |
| NM_002249.5:c.934-19693G>A | NP_002240.3:n.934-19693G>A | |
| NM_170782.2:c.18+17818G>A | NP_740752.1:n.18+17818G>A | |
| NM_001365837.1:c.-6-19693G>A | NP_001352766.1:n.-6-19693G>A | |
| NM_001365838.1:c.-6-19693G>A | NP_001352767.1:n.-6-19693G>A | |
| NM_002249.6:c.934-19693G>A MANE Select | NP_002240.3:n.934-19693G>A | |
| NM_170782.3:c.18+17818G>A | NP_740752.1:n.18+17818G>A | |
| NM_001204087.2:c.934-19693G>A | NP_001191016.1:n.934-19693G>A |