Linked Data
ClinVar Variation Id:
1980957
ClinVar RCV Id:
RCV002751136
dbSNP Id:
rs752065845
ExAC:
7:143036368 C / T
gnomAD v2:
7-143036368-C-T
gnomAD v4:
7-143339275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339275C>T , CM000669.2:g.143339275C>T | GRCh38 |
| NC_000007.13:g.143036368C>T , CM000669.1:g.143036368C>T | GRCh37 |
| NC_000007.12:g.142746490C>T | NCBI36 |
| NG_009815.1:g.28150C>T | |
| NG_009815.2:g.28150C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.1424C>T | ENSP00000498052.2:p.Thr475Ile | |
| ENST00000343257.7:c.1424C>T MANE Select | ENSP00000339867.2:p.Thr475Ile | |
| ENST00000432192.6:c.1248C>T | ||
| ENST00000343257.6:c.1424C>T | ENSP00000339867.2:p.Thr475Ile | |
| NM_000083.2:c.1424C>T | NP_000074.2:p.Thr475Ile | |
| NR_046453.1:n.1364C>T | ||
| XM_011515781.1:c.1448C>T | XP_011514083.1:p.Thr483Ile | |
| XM_011515782.1:c.170C>T | XP_011514084.1:p.Thr57Ile | |
| XM_011515782.2:c.170C>T | XP_011514084.1:p.Thr57Ile | |
| XM_017011739.1:c.998C>T | XP_016867228.1:p.Thr333Ile | |
| XM_017011740.1:c.974C>T | XP_016867229.1:p.Thr325Ile | |
| NM_000083.3:c.1424C>T MANE Select | NP_000074.3:p.Thr475Ile | |
| NR_046453.2:n.1379C>T |