Linked Data
dbSNP Id:
rs748438909
ExAC:
7:83021914 T / C
gnomAD v2:
7-83021914-T-C
gnomAD v4:
7-83392598-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392598T>C , CM000669.2:g.83392598T>C | GRCh38 |
| NC_000007.13:g.83021914T>C , CM000669.1:g.83021914T>C | GRCh37 |
| NC_000007.12:g.82859850T>C | NCBI36 |
| NG_021242.1:g.261566A>G | |
| NG_021242.2:g.261566A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1444A>G | ENSP00000405052.1:p.Ile482Val | |
| ENST00000642232.1:c.1624A>G | ENSP00000494064.1:p.Ile542Val | |
| ENST00000643230.2:c.1624A>G MANE Select | ENSP00000496491.1:p.Ile542Val | |
| ENST00000643441.1:n.1609A>G | ||
| ENST00000307792.7:c.1624A>G | ENSP00000303212.3:p.Ile542Val | |
| ENST00000427262.5:c.1444A>G | ENSP00000405052.1:p.Ile482Val | |
| NM_001178129.1:c.1444A>G | NP_001171600.1:p.Ile482Val | |
| NM_012431.2:c.1624A>G | NP_036563.1:p.Ile542Val | |
| XM_011516715.1:c.1624A>G | XP_011515017.1:p.Ile542Val | |
| NM_012431.3:c.1624A>G MANE Select | NP_036563.1:p.Ile542Val | |
| NM_001178129.2:c.1444A>G | NP_001171600.1:p.Ile482Val |