Linked Data
ClinVar Variation Id:
160373
ClinVar RCV Id:
RCV002508141
dbSNP Id:
rs187015338
ExAC:
2:113818503 A / G
gnomAD v2:
2-113818503-A-G
gnomAD v3:
2-113060926-A-G
gnomAD v4:
2-113060926-A-G
PubMed:
PMID:23303454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113060926A>G , CM000664.2:g.113060926A>G | GRCh38 |
| NC_000002.11:g.113818503A>G , CM000664.1:g.113818503A>G | GRCh37 |
| NC_000002.10:g.113534974A>G | NCBI36 |
| NG_031864.1:g.7289A>G , LRG_730:g.7289A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000437409.2:c.104A>G | ENSP00000409262.2:p.Lys35Arg | |
| ENST00000393200.7:c.104A>G MANE Select | ENSP00000376896.2:p.Lys35Arg | |
| ENST00000346807.7:c.104A>G | ENSP00000259212.3:p.Lys35Arg | |
| ENST00000393200.6:c.104A>G | ENSP00000376896.2:p.Lys35Arg | |
| ENST00000437409.1:c.104A>G | ENSP00000409262.1:p.Lys35Arg | |
| NM_012275.2:c.104A>G , LRG_730t2:c.104A>G | NP_036407.1:p.Lys35Arg | |
| NM_173170.1:c.104A>G , LRG_730t1:c.104A>G | NP_775262.1:p.Lys35Arg | |
| NM_012275.3:c.104A>G MANE Select | NP_036407.1:p.Lys35Arg |