Linked Data
ClinVar Variation Id:
2152838
ClinVar RCV Id:
RCV003077304
dbSNP Id:
rs747116916
ExAC:
7:83036494 T / C
gnomAD v2:
7-83036494-T-C
gnomAD v3:
7-83407178-T-C
gnomAD v4:
7-83407178-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407178T>C , CM000669.2:g.83407178T>C | GRCh38 |
| NC_000007.13:g.83036494T>C , CM000669.1:g.83036494T>C | GRCh37 |
| NC_000007.12:g.82874430T>C | NCBI36 |
| NG_021242.1:g.246986A>G | |
| NG_021242.2:g.246986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.552A>G | ENSP00000405052.1:p.Val184= | |
| ENST00000642232.1:c.732A>G | ENSP00000494064.1:p.Val244= | |
| ENST00000643230.2:c.732A>G MANE Select | ENSP00000496491.1:p.Val244= | |
| ENST00000643441.1:n.717A>G | ||
| ENST00000644381.1:n.295A>G | ||
| ENST00000307792.7:c.732A>G | ENSP00000303212.3:p.Val244= | |
| ENST00000427262.5:c.552A>G | ENSP00000405052.1:p.Val184= | |
| NM_001178129.1:c.552A>G | NP_001171600.1:p.Val184= | |
| NM_012431.2:c.732A>G | NP_036563.1:p.Val244= | |
| XM_011516715.1:c.732A>G | XP_011515017.1:p.Val244= | |
| NM_012431.3:c.732A>G MANE Select | NP_036563.1:p.Val244= | |
| NM_001178129.2:c.552A>G | NP_001171600.1:p.Val184= |