Linked Data
ClinVar Variation Id:
92738
dbSNP Id:
rs76394784
ExAC:
12:103288661 T / A
gnomAD v2:
12-103288661-T-A
gnomAD v3:
12-102894883-T-A
gnomAD v4:
12-102894883-T-A
ERepo:
CA273113/MONDO:0009861/006
PubMed:
PMID:8889590
PMID:9634518
PMID:10394930
PMID:10495930
PMID:10693064
PMID:11326337
PMID:11524738
PMID:11678552
PMID:12655553
PMID:15464430
PMID:15557004
PMID:16143554
PMID:17513426
PMID:17935162
PMID:19609714
PMID:21871829
PMID:22841515
PMID:23074961
PMID:23430918
PMID:23500595
PMID:23764561
PMID:23891399
PMID:24350308
PMID:26666653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894883T>A , CM000674.2:g.102894883T>A | GRCh38 |
| NC_000012.11:g.103288661T>A , CM000674.1:g.103288661T>A | GRCh37 |
| NC_000012.10:g.101812791T>A | NCBI36 |
| NG_008690.1:g.27720A>T | |
| NG_008690.2:g.68528A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.204A>T MANE Select | ENSP00000448059.1:p.Arg68Ser | |
| ENST00000307000.7:c.189A>T | ENSP00000303500.2:p.Arg63Ser | |
| ENST00000546844.1:c.204A>T | ENSP00000446658.1:p.Arg68Ser | |
| ENST00000548677.2:n.291A>T | ||
| ENST00000548928.1:n.126A>T | ||
| ENST00000549111.5:n.300A>T | ||
| ENST00000550978.6:c.188A>T | ||
| ENST00000551337.5:c.204A>T | ENSP00000447620.1:p.Arg68Ser | |
| ENST00000551988.5:n.293A>T | ||
| ENST00000553106.5:c.204A>T | ENSP00000448059.1:p.Arg68Ser | |
| ENST00000635500.1:n.172A>T | ||
| NM_000277.1:c.204A>T | NP_000268.1:p.Arg68Ser | |
| XM_011538422.1:c.204A>T | XP_011536724.1:p.Arg68Ser | |
| NM_000277.2:c.204A>T | NP_000268.1:p.Arg68Ser | |
| NM_001354304.1:c.204A>T | NP_001341233.1:p.Arg68Ser | |
| XM_017019370.2:c.204A>T | XP_016874859.1:p.Arg68Ser | |
| NM_000277.3:c.204A>T MANE Select | NP_000268.1:p.Arg68Ser | |
| NM_001354304.2:c.204A>T | NP_001341233.1:p.Arg68Ser |