Linked Data
ClinVar Variation Id:
48397
dbSNP Id:
rs111033275
ExAC:
1:215848910 G / A
gnomAD v2:
1-215848910-G-A
gnomAD v3:
1-215675568-G-A
gnomAD v4:
1-215675568-G-A
COSMIC:
COSM2155559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675568G>A , CM000663.2:g.215675568G>A | GRCh38 |
| NC_000001.10:g.215848910G>A , CM000663.1:g.215848910G>A | GRCh37 |
| NC_000001.9:g.213915533G>A | NCBI36 |
| NG_009497.1:g.752829C>T | |
| NG_009497.2:g.752881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12343C>T MANE Select | ENSP00000305941.3:p.Arg4115Cys | |
| ENST00000674083.1:c.12343C>T | ENSP00000501296.1:p.Arg4115Cys | |
| ENST00000307340.7:c.12343C>T | ENSP00000305941.3:p.Arg4115Cys | |
| NM_206933.2:c.12343C>T | NP_996816.2:p.Arg4115Cys | |
| NM_206933.3:c.12343C>T | NP_996816.2:p.Arg4115Cys | |
| NM_206933.4:c.12343C>T MANE Select | NP_996816.3:p.Arg4115Cys |