Linked Data
ClinVar Variation Id:
213113
ClinVar RCV Id:
RCV000196667
dbSNP Id:
rs863223494
gnomAD v4:
2-189050615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050615G>A , CM000664.2:g.189050615G>A | GRCh38 |
| NC_000002.11:g.189915341G>A , CM000664.1:g.189915341G>A | GRCh37 |
| NC_000002.10:g.189623586G>A | NCBI36 |
| NG_011799.1:g.134265C>T | |
| NG_011799.2:g.134265C>T | |
| NG_011799.3:g.179687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2993C>T MANE Select | ENSP00000364000.3:p.Pro998Leu | |
| ENST00000374866.7:c.2993C>T | ENSP00000364000.3:p.Pro998Leu | |
| ENST00000618828.1:c.1832C>T | ENSP00000482184.1:p.Pro611Leu | |
| NM_000393.3:c.2993C>T | NP_000384.2:p.Pro998Leu | |
| XM_011510573.1:c.2855C>T | XP_011508875.1:p.Pro952Leu | |
| NM_000393.4:c.2993C>T | NP_000384.2:p.Pro998Leu | |
| XM_011510573.3:c.2855C>T | XP_011508875.1:p.Pro952Leu | |
| NM_000393.5:c.2993C>T MANE Select | NP_000384.2:p.Pro998Leu |