Linked Data
ClinVar Variation Id:
750883
ClinVar RCV Id:
RCV000927894
dbSNP Id:
rs371533699
ExAC:
10:50669468 G / A
gnomAD v2:
10-50669468-G-A
gnomAD v3:
10-49461422-G-A
gnomAD v4:
10-49461422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461422G>A , CM000672.2:g.49461422G>A | GRCh38 |
| NC_000010.10:g.50669468G>A , CM000672.1:g.50669468G>A | GRCh37 |
| NC_000010.9:g.50339474G>A | NCBI36 |
| NG_009442.1:g.82680C>T , LRG_465:g.82680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3913C>T MANE Select | ENSP00000348089.5:p.Leu1305= | |
| ENST00000679552.1:n.984C>T | ||
| ENST00000679871.1:n.1059C>T | ||
| ENST00000679974.1:n.962C>T | ||
| ENST00000681632.1:n.5316C>T | ||
| ENST00000681659.1:c.3754C>T | ENSP00000505631.1:p.Leu1252= | |
| ENST00000355832.9:c.3913C>T | ENSP00000348089.5:p.Leu1305= | |
| ENST00000465653.1:n.235C>T | ||
| ENST00000623073.3:c.*2209C>T | ENSP00000485650.1:n.*2209C>T | |
| ENST00000623115.3:c.2023C>T | ENSP00000485321.1:p.Leu675= | |
| ENST00000624341.3:c.1745C>T | ||
| NM_000124.3:c.3913C>T | NP_000115.1:p.Leu1305= | |
| XR_945953.1:n.243-10143G>A | ||
| NM_001346440.1:c.3913C>T | NP_001333369.1:p.Leu1305= | |
| NM_000124.4:c.3913C>T MANE Select | NP_000115.1:p.Leu1305= | |
| NM_001346440.2:c.3913C>T | NP_001333369.1:p.Leu1305= |