Linked Data
dbSNP Id:
rs373533331
ExAC:
11:62763484 T / C
gnomAD v2:
11-62763484-T-C
gnomAD v3:
11-62996012-T-C
gnomAD v4:
11-62996012-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62996012T>C , CM000673.2:g.62996012T>C | GRCh38 |
| NC_000011.9:g.62763484T>C , CM000673.1:g.62763484T>C | GRCh37 |
| NC_000011.8:g.62520060T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.885+17A>G MANE Select | ENSP00000337335.2:n.885+17A>G | |
| ENST00000311438.12:c.885+17A>G | ENSP00000311463.8:n.885+17A>G | |
| ENST00000336232.6:c.885+17A>G | ENSP00000337335.2:n.885+17A>G | |
| ENST00000430500.6:c.885+17A>G | ENSP00000398548.2:n.885+17A>G | |
| ENST00000535878.5:c.516+17A>G | ENSP00000443368.1:n.516+17A>G | |
| ENST00000539841.1:n.720A>G | ||
| ENST00000545207.5:c.612+17A>G | ENSP00000441658.1:n.612+17A>G | |
| NM_001184732.1:c.885+17A>G | NP_001171661.1:n.885+17A>G | |
| NM_001184733.1:c.612+17A>G | NP_001171662.1:n.612+17A>G | |
| NM_001184736.1:c.516+17A>G | NP_001171665.1:n.516+17A>G | |
| NM_004254.3:c.885+17A>G | NP_004245.2:n.885+17A>G | |
| XM_011545364.1:c.516+17A>G | XP_011543666.1:n.516+17A>G | |
| NM_004254.4:c.885+17A>G MANE Select | NP_004245.2:n.885+17A>G | |
| NM_001184732.2:c.885+17A>G | NP_001171661.1:n.885+17A>G | |
| NM_001184733.2:c.612+17A>G | NP_001171662.1:n.612+17A>G | |
| NM_001184736.2:c.516+17A>G | NP_001171665.1:n.516+17A>G |