Linked Data
ClinVar Variation Id:
586
dbSNP Id:
rs62514891
ExAC:
12:103310908 T / C
gnomAD v2:
12-103310908-T-C
gnomAD v4:
12-102917130-T-C
PubMed:
PMID:1301193
PMID:1301201
PMID:1609797
PMID:2574002
PMID:9634518
PMID:9781015
PMID:17924342
PMID:26666653
ERepo:
CA114360/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917130T>C , CM000674.2:g.102917130T>C | GRCh38 |
| NC_000012.11:g.103310908T>C , CM000674.1:g.103310908T>C | GRCh37 |
| NC_000012.10:g.101835038T>C | NCBI36 |
| NG_008690.1:g.5473A>G | |
| NG_008690.2:g.46281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1A>G MANE Select | ENSP00000448059.1:p.Met1Val | |
| ENST00000307000.7:c.-147A>G | ENSP00000303500.2:n.-147A>G | |
| ENST00000546844.1:c.1A>G | ENSP00000446658.1:p.Met1Val | |
| ENST00000547319.1:n.312A>G | ||
| ENST00000549111.5:n.97A>G | ||
| ENST00000551337.5:c.1A>G | ENSP00000447620.1:p.Met1Val | |
| ENST00000551988.5:n.90A>G | ||
| ENST00000553106.5:c.1A>G | ENSP00000448059.1:p.Met1Val | |
| ENST00000635500.1:n.29-4232A>G | ||
| NM_000277.1:c.1A>G | NP_000268.1:p.Met1Val | |
| XM_011538422.1:c.1A>G | XP_011536724.1:p.Met1Val | |
| NM_000277.2:c.1A>G | NP_000268.1:p.Met1Val | |
| NM_001354304.1:c.1A>G | NP_001341233.1:p.Met1Val | |
| XM_017019370.2:c.1A>G | XP_016874859.1:p.Met1Val | |
| NM_000277.3:c.1A>G MANE Select | NP_000268.1:p.Met1Val | |
| NM_001354304.2:c.1A>G | NP_001341233.1:p.Met1Val |