Linked Data
ClinVar Variation Id:
447047
dbSNP Id:
rs756981034
ExAC:
7:143029826 C / T
gnomAD v2:
7-143029826-C-T
gnomAD v3:
7-143332733-C-T
gnomAD v4:
7-143332733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332733C>T , CM000669.2:g.143332733C>T | GRCh38 |
| NC_000007.13:g.143029826C>T , CM000669.1:g.143029826C>T | GRCh37 |
| NC_000007.12:g.142739948C>T | NCBI36 |
| NG_009815.1:g.21608C>T | |
| NG_009815.2:g.21608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1261C>T | ENSP00000498052.2:p.Arg421Cys | |
| ENST00000343257.7:c.1261C>T MANE Select | ENSP00000339867.2:p.Arg421Cys | |
| ENST00000432192.6:c.1085C>T | ||
| ENST00000343257.6:c.1261C>T | ENSP00000339867.2:p.Arg421Cys | |
| NM_000083.2:c.1261C>T | NP_000074.2:p.Arg421Cys | |
| NR_046453.1:n.1341+230C>T | ||
| XM_011515781.1:c.1285C>T | XP_011514083.1:p.Arg429Cys | |
| XM_011515782.1:c.7C>T | XP_011514084.1:p.Arg3Cys | |
| XM_011515782.2:c.7C>T | XP_011514084.1:p.Arg3Cys | |
| XM_017011739.1:c.835C>T | XP_016867228.1:p.Arg279Cys | |
| XM_017011740.1:c.811C>T | XP_016867229.1:p.Arg271Cys | |
| NM_000083.3:c.1261C>T MANE Select | NP_000074.3:p.Arg421Cys | |
| NR_046453.2:n.1356+230C>T |