Linked Data
ClinVar Variation Id:
2954447
ClinVar RCV Id:
RCV003813670
dbSNP Id:
rs1342076304
gnomAD v2:
7-143047690-C-T
gnomAD v4:
7-143350597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350597C>T , CM000669.2:g.143350597C>T | GRCh38 |
| NC_000007.13:g.143047690C>T , CM000669.1:g.143047690C>T | GRCh37 |
| NC_000007.12:g.142757812C>T | NCBI36 |
| NG_009815.1:g.39472C>T | |
| NG_009815.2:g.39472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2538C>T | ENSP00000498052.2:p.Leu846= | |
| ENST00000343257.7:c.2538C>T MANE Select | ENSP00000339867.2:p.Leu846= | |
| ENST00000432192.6:c.2362C>T | ||
| ENST00000343257.6:c.2538C>T | ENSP00000339867.2:p.Leu846= | |
| NM_000083.2:c.2538C>T | NP_000074.2:p.Leu846= | |
| NR_046453.1:n.2478C>T | ||
| XM_011515781.1:c.2562C>T | XP_011514083.1:p.Leu854= | |
| XM_011515782.1:c.1284C>T | XP_011514084.1:p.Leu428= | |
| XM_011515782.2:c.1284C>T | XP_011514084.1:p.Leu428= | |
| XM_017011739.1:c.2112C>T | XP_016867228.1:p.Leu704= | |
| XM_017011740.1:c.2088C>T | XP_016867229.1:p.Leu696= | |
| NM_000083.3:c.2538C>T MANE Select | NP_000074.3:p.Leu846= | |
| NR_046453.2:n.2493C>T |