Linked Data
ClinVar Variation Id:
375703
dbSNP Id:
rs1064797102
gnomAD v4:
8-91071136-A-G
PubMed:
PMID:28343629
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.91071136A>G , CM000670.2:g.91071136A>G | GRCh38 |
| NC_000008.10:g.92083364A>G , CM000670.1:g.92083364A>G | GRCh37 |
| NC_000008.9:g.92152540A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404789.8:c.83-2A>G MANE Select | ENSP00000384190.4:n.83-2A>G | |
| ENST00000285420.8:c.173-2A>G | ENSP00000285420.4:n.173-2A>G | |
| ENST00000404789.7:c.83-2A>G | ENSP00000384190.4:n.83-2A>G | |
| ENST00000522894.5:c.83-2A>G | ENSP00000428528.2:n.83-2A>G | |
| ENST00000524027.5:n.106-2A>G | ||
| ENST00000615618.1:c.-361-2A>G | ENSP00000481196.1:n.-361-2A>G | |
| ENST00000617869.4:c.173-2A>G | ENSP00000483706.1:n.173-2A>G | |
| NM_001286745.1:c.-361-2A>G | NP_001273674.1:n.-361-2A>G | |
| NM_016023.3:c.173-2A>G | NP_057107.3:n.173-2A>G | |
| XM_011517129.1:c.173-2A>G | XP_011515431.1:n.173-2A>G | |
| NM_001286745.2:c.-361-2A>G | NP_001273674.1:n.-361-2A>G | |
| NM_016023.4:c.83-2A>G | NP_057107.4:n.83-2A>G | |
| XM_011517129.2:c.-357-2A>G | XP_011515431.2:n.-357-2A>G | |
| NM_016023.5:c.83-2A>G MANE Select | NP_057107.4:n.83-2A>G | |
| NM_001286745.3:c.-361-2A>G | NP_001273674.1:n.-361-2A>G |