Linked Data
ClinVar Variation Id:
17545
ClinVar RCV Id:
RCV000019099
RCV000019098
RCV000020107
RCV000292791
RCV000626582
RCV000627759
RCV001564017
RCV001794458
RCV001813999
dbSNP Id:
rs55960271
ExAC:
7:143048771 C / T
gnomAD v2:
7-143048771-C-T
gnomAD v3:
7-143351678-C-T
gnomAD v4:
7-143351678-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351678C>T , CM000669.2:g.143351678C>T | GRCh38 |
| NC_000007.13:g.143048771C>T , CM000669.1:g.143048771C>T | GRCh37 |
| NC_000007.12:g.142758893C>T | NCBI36 |
| NG_009815.1:g.40553C>T | |
| NG_009815.2:g.40553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2680C>T | ENSP00000498052.2:p.Arg894Ter | |
| ENST00000343257.7:c.2680C>T MANE Select | ENSP00000339867.2:p.Arg894Ter | |
| ENST00000432192.6:c.2504C>T | ||
| ENST00000343257.6:c.2680C>T | ENSP00000339867.2:p.Arg894Ter | |
| NM_000083.2:c.2680C>T | NP_000074.2:p.Arg894Ter | |
| NR_046453.1:n.2620C>T | ||
| XM_011515781.1:c.2704C>T | XP_011514083.1:p.Arg902Ter | |
| XM_011515782.1:c.1426C>T | XP_011514084.1:p.Arg476Ter | |
| XM_011515782.2:c.1426C>T | XP_011514084.1:p.Arg476Ter | |
| XM_017011739.1:c.2254C>T | XP_016867228.1:p.Arg752Ter | |
| XM_017011740.1:c.2230C>T | XP_016867229.1:p.Arg744Ter | |
| NM_000083.3:c.2680C>T MANE Select | NP_000074.3:p.Arg894Ter | |
| NR_046453.2:n.2635C>T |