Linked Data
ClinVar Variation Id:
194811
dbSNP Id:
rs794727199
gnomAD v4:
13-48452992-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48452992G>A , CM000675.2:g.48452992G>A | GRCh38 |
| NC_000013.10:g.49027128G>A , CM000675.1:g.49027128G>A | GRCh37 |
| NC_000013.9:g.47925129G>A | NCBI36 |
| NG_009009.1:g.154246G>A , LRG_517:g.154246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1696-1G>A MANE Select | ENSP00000267163.4:n.1696-1G>A | |
| ENST00000643064.1:c.194+71549G>A | ||
| ENST00000650461.1:c.1696-1G>A | ENSP00000497193.1:n.1696-1G>A | |
| ENST00000267163.4:c.1696-1G>A | ENSP00000267163.4:n.1696-1G>A | |
| ENST00000480491.1:n.395-1G>A | ||
| NM_000321.2:c.1696-1G>A , LRG_517t1:c.1696-1G>A | NP_000312.2:n.1696-1G>A | |
| XM_011535171.1:c.1435-1G>A | XP_011533473.1:n.1435-1G>A | |
| XM_011535171.2:c.1435-1G>A | XP_011533473.1:n.1435-1G>A | |
| NM_000321.3:c.1696-1G>A MANE Select | NP_000312.2:n.1696-1G>A |