Linked Data
ClinVar Variation Id:
225134
ClinVar RCV Id:
RCV000210807
dbSNP Id:
rs542645236
ExAC:
12:103288545 T / C
gnomAD v2:
12-103288545-T-C
gnomAD v3:
12-102894767-T-C
gnomAD v4:
12-102894767-T-C
PubMed:
PMID:24078561
ERepo:
CA354151/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894767T>C , CM000674.2:g.102894767T>C | GRCh38 |
| NC_000012.11:g.103288545T>C , CM000674.1:g.103288545T>C | GRCh37 |
| NC_000012.10:g.101812675T>C | NCBI36 |
| NG_008690.1:g.27836A>G | |
| NG_008690.2:g.68644A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.320A>G MANE Select | ENSP00000448059.1:p.His107Arg | |
| ENST00000307000.7:c.305A>G | ENSP00000303500.2:p.His102Arg | |
| ENST00000546844.1:c.320A>G | ENSP00000446658.1:p.His107Arg | |
| ENST00000548928.1:n.242A>G | ||
| ENST00000549111.5:n.416A>G | ||
| ENST00000550978.6:c.304A>G | ||
| ENST00000551337.5:c.320A>G | ENSP00000447620.1:p.His107Arg | |
| ENST00000551988.5:n.409A>G | ||
| ENST00000553106.5:c.320A>G | ENSP00000448059.1:p.His107Arg | |
| NM_000277.1:c.320A>G | NP_000268.1:p.His107Arg | |
| XM_011538422.1:c.320A>G | XP_011536724.1:p.His107Arg | |
| NM_000277.2:c.320A>G | NP_000268.1:p.His107Arg | |
| NM_001354304.1:c.320A>G | NP_001341233.1:p.His107Arg | |
| XM_017019370.2:c.320A>G | XP_016874859.1:p.His107Arg | |
| NM_000277.3:c.320A>G MANE Select | NP_000268.1:p.His107Arg | |
| NM_001354304.2:c.320A>G | NP_001341233.1:p.His107Arg |