Linked Data
ClinVar Variation Id:
1578013
ClinVar RCV Id:
RCV002081266
dbSNP Id:
rs2134012879
MyVariant Identifiers:
chr11:g.6413288C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392058C>G , CM000673.2:g.6392058C>G | GRCh38 |
| NC_000011.9:g.6413288C>G , CM000673.1:g.6413288C>G | GRCh37 |
| NC_000011.8:g.6369864C>G | NCBI36 |
| NG_011780.1:g.6634C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.993C>G MANE Select | ENSP00000340409.4:p.Pro331= | |
| ENST00000342245.8:c.993C>G | ENSP00000340409.4:p.Pro331= | |
| ENST00000526280.1:c.182C>G | ||
| ENST00000527275.5:c.990C>G | ENSP00000435350.1:p.Pro330= | |
| ENST00000531303.5:c.438+555C>G | ENSP00000432625.1:n.438+555C>G | |
| ENST00000533123.5:c.993C>G | ENSP00000435950.1:p.Pro331= | |
| ENST00000534405.5:c.993C>G | ENSP00000434353.1:p.Pro331= | |
| NM_000543.4:c.993C>G | NP_000534.3:p.Pro331= | |
| NM_001007593.2:c.990C>G | NP_001007594.2:p.Pro330= | |
| XM_005253075.3:c.993C>G | XP_005253132.1:p.Pro331= | |
| XM_011520303.1:c.993C>G | XP_011518605.1:p.Pro331= | |
| XM_011520304.1:c.993C>G | XP_011518606.1:p.Pro331= | |
| XR_930886.1:n.1291C>G | ||
| NM_001318087.1:c.993C>G | NP_001305016.1:p.Pro331= | |
| NM_001318088.1:c.32C>G | NP_001305017.1:p.Pro11Arg | |
| NM_001365135.1:c.993C>G | NP_001352064.1:p.Pro331= | |
| NR_027400.2:n.1178C>G | ||
| NR_134502.1:n.623+555C>G | ||
| XM_011520304.2:c.993C>G | XP_011518606.1:p.Pro331= | |
| XR_001747940.2:n.1118C>G | ||
| XR_002957158.1:n.1118C>G | ||
| NM_000543.5:c.993C>G MANE Select | NP_000534.3:p.Pro331= | |
| NM_001007593.3:c.990C>G | NP_001007594.2:p.Pro330= | |
| NM_001318087.2:c.993C>G | NP_001305016.1:p.Pro331= | |
| NM_001318088.2:c.32C>G | NP_001305017.1:p.Pro11Arg | |
| NM_001365135.2:c.993C>G | NP_001352064.1:p.Pro331= | |
| NR_027400.3:n.1118C>G | ||
| NR_134502.2:n.563+555C>G |