Linked Data
ClinVar Variation Id:
2137414
ClinVar RCV Id:
RCV003058394
dbSNP Id:
rs866012140
gnomAD v2:
12-103288654-G-A
gnomAD v3:
12-102894876-G-A
gnomAD v4:
12-102894876-G-A
COSMIC:
COSM228590
MyVariant Identifiers:
chr12:g.103288654G>A (hg19)
chr12:g.103288654_103288657delinsAAGA (hg19)
chr12:g.102894876G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894876G>A , CM000674.2:g.102894876G>A | GRCh38 |
| NC_000012.11:g.103288654G>A , CM000674.1:g.103288654G>A | GRCh37 |
| NC_000012.10:g.101812784G>A | NCBI36 |
| NG_008690.1:g.27727C>T | |
| NG_008690.2:g.68535C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.211C>T MANE Select | ENSP00000448059.1:p.Arg71Cys | |
| ENST00000307000.7:c.196C>T | ENSP00000303500.2:p.Arg66Cys | |
| ENST00000546844.1:c.211C>T | ENSP00000446658.1:p.Arg71Cys | |
| ENST00000548677.2:n.298C>T | ||
| ENST00000548928.1:n.133C>T | ||
| ENST00000549111.5:n.307C>T | ||
| ENST00000550978.6:c.195C>T | ||
| ENST00000551337.5:c.211C>T | ENSP00000447620.1:p.Arg71Cys | |
| ENST00000551988.5:n.300C>T | ||
| ENST00000553106.5:c.211C>T | ENSP00000448059.1:p.Arg71Cys | |
| ENST00000635500.1:n.179C>T | ||
| NM_000277.1:c.211C>T | NP_000268.1:p.Arg71Cys | |
| XM_011538422.1:c.211C>T | XP_011536724.1:p.Arg71Cys | |
| NM_000277.2:c.211C>T | NP_000268.1:p.Arg71Cys | |
| NM_001354304.1:c.211C>T | NP_001341233.1:p.Arg71Cys | |
| XM_017019370.2:c.211C>T | XP_016874859.1:p.Arg71Cys | |
| NM_000277.3:c.211C>T MANE Select | NP_000268.1:p.Arg71Cys | |
| NM_001354304.2:c.211C>T | NP_001341233.1:p.Arg71Cys |