Linked Data
ClinVar Variation Id:
1532842
ClinVar RCV Id:
RCV002102199
dbSNP Id:
rs750750345
ExAC:
1:68895552 C / T
gnomAD v2:
1-68895552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429869C>T , CM000663.2:g.68429869C>T | GRCh38 |
| NC_000001.10:g.68895552C>T , CM000663.1:g.68895552C>T | GRCh37 |
| NC_000001.9:g.68668140C>T | NCBI36 |
| NG_008472.1:g.25091G>A | |
| NG_008472.2:g.25091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1509G>A MANE Select | ENSP00000262340.5:p.Leu503= | |
| ENST00000262340.5:c.1509G>A | ENSP00000262340.5:p.Leu503= | |
| NM_000329.2:c.1509G>A | NP_000320.1:p.Leu503= | |
| XM_017002027.1:c.1233G>A | XP_016857516.1:p.Leu411= | |
| NM_000329.3:c.1509G>A MANE Select | NP_000320.1:p.Leu503= |