Linked Data
ClinVar Variation Id:
17531
dbSNP Id:
rs121912799
ExAC:
7:143029583 T / G
gnomAD v2:
7-143029583-T-G
gnomAD v3:
7-143332490-T-G
gnomAD v4:
7-143332490-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332490T>G , CM000669.2:g.143332490T>G | GRCh38 |
| NC_000007.13:g.143029583T>G , CM000669.1:g.143029583T>G | GRCh37 |
| NC_000007.12:g.142739705T>G | NCBI36 |
| NG_009815.1:g.21365T>G | |
| NG_009815.2:g.21365T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.1238T>G | ENSP00000498052.2:p.Phe413Cys | |
| ENST00000343257.7:c.1238T>G MANE Select | ENSP00000339867.2:p.Phe413Cys | |
| ENST00000432192.6:c.1062T>G | ||
| ENST00000343257.6:c.1238T>G | ENSP00000339867.2:p.Phe413Cys | |
| NM_000083.2:c.1238T>G | NP_000074.2:p.Phe413Cys | |
| NR_046453.1:n.1328T>G | ||
| XM_011515781.1:c.1238T>G | XP_011514083.1:p.Phe413Cys | |
| XM_011515782.1:c.-3-234T>G | XP_011514084.1:n.-3-234T>G | |
| XM_011515782.2:c.-3-234T>G | XP_011514084.1:n.-3-234T>G | |
| XM_017011739.1:c.788T>G | XP_016867228.1:p.Phe263Cys | |
| XM_017011740.1:c.788T>G | XP_016867229.1:p.Phe263Cys | |
| NM_000083.3:c.1238T>G MANE Select | NP_000074.3:p.Phe413Cys | |
| NR_046453.2:n.1343T>G |