Linked Data
ClinVar Variation Id:
2107822
ClinVar RCV Id:
RCV003033833
dbSNP Id:
rs910263325
gnomAD v4:
7-143339279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339279T>C , CM000669.2:g.143339279T>C | GRCh38 |
| NC_000007.13:g.143036372T>C , CM000669.1:g.143036372T>C | GRCh37 |
| NC_000007.12:g.142746494T>C | NCBI36 |
| NG_009815.1:g.28154T>C | |
| NG_009815.2:g.28154T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1428T>C | ENSP00000498052.2:p.Thr476= | |
| ENST00000343257.7:c.1428T>C MANE Select | ENSP00000339867.2:p.Thr476= | |
| ENST00000432192.6:c.1252T>C | ||
| ENST00000343257.6:c.1428T>C | ENSP00000339867.2:p.Thr476= | |
| NM_000083.2:c.1428T>C | NP_000074.2:p.Thr476= | |
| NR_046453.1:n.1368T>C | ||
| XM_011515781.1:c.1452T>C | XP_011514083.1:p.Thr484= | |
| XM_011515782.1:c.174T>C | XP_011514084.1:p.Thr58= | |
| XM_011515782.2:c.174T>C | XP_011514084.1:p.Thr58= | |
| XM_017011739.1:c.1002T>C | XP_016867228.1:p.Thr334= | |
| XM_017011740.1:c.978T>C | XP_016867229.1:p.Thr326= | |
| NM_000083.3:c.1428T>C MANE Select | NP_000074.3:p.Thr476= | |
| NR_046453.2:n.1383T>C |