Linked Data
ClinVar Variation Id:
134711
dbSNP Id:
rs112170602
ExAC:
12:49427495 G / C
gnomAD v2:
12-49427495-G-C
gnomAD v3:
12-49033712-G-C
gnomAD v4:
12-49033712-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49033712G>C , CM000674.2:g.49033712G>C | GRCh38 |
| NC_000012.11:g.49427495G>C , CM000674.1:g.49427495G>C | GRCh37 |
| NC_000012.10:g.47713762G>C | NCBI36 |
| NG_027827.1:g.26613C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.10993C>G | ENSP00000506726.1:p.Pro3665Ala | |
| ENST00000685166.1:c.11002C>G | ENSP00000509386.1:p.Pro3668Ala | |
| ENST00000685554.1:c.553C>G | ENSP00000508640.1:p.Pro185Ala | |
| ENST00000687201.1:c.2572C>G | ENSP00000510037.1:p.Pro858Ala | |
| ENST00000692637.1:c.10990C>G | ENSP00000509666.1:p.Pro3664Ala | |
| ENST00000692841.1:c.2472C>G | ENSP00000508711.1:n.2472C>G | |
| ENST00000301067.12:c.10993C>G MANE Select | ENSP00000301067.7:p.Pro3665Ala | |
| ENST00000301067.11:c.10993C>G | ENSP00000301067.7:p.Pro3665Ala | |
| NM_003482.3:c.10993C>G | NP_003473.3:p.Pro3665Ala | |
| XM_005269162.3:c.10993C>G | XP_005269219.1:p.Pro3665Ala | |
| XM_006719614.2:c.11002C>G | XP_006719677.1:p.Pro3668Ala | |
| XM_006719616.2:c.10990C>G | XP_006719679.1:p.Pro3664Ala | |
| XM_011538770.1:c.11002C>G | XP_011537072.1:p.Pro3668Ala | |
| XM_011538771.1:c.10999C>G | XP_011537073.1:p.Pro3667Ala | |
| XM_011538772.1:c.10993C>G | XP_011537074.1:p.Pro3665Ala | |
| XM_011538773.1:c.10990C>G | XP_011537075.1:p.Pro3664Ala | |
| XM_011538774.1:c.10981C>G | XP_011537076.1:p.Pro3661Ala | |
| XM_011538775.1:c.11002C>G | XP_011537077.1:p.Pro3668Ala | |
| XM_011538776.1:c.10909C>G | XP_011537078.1:p.Pro3637Ala | |
| XR_944740.1:n.13322C>G | ||
| XM_005269162.4:c.10993C>G | XP_005269219.1:p.Pro3665Ala | |
| XM_006719614.4:c.11002C>G | XP_006719677.1:p.Pro3668Ala | |
| XM_006719616.3:c.10990C>G | XP_006719679.1:p.Pro3664Ala | |
| XM_011538770.2:c.11002C>G | XP_011537072.1:p.Pro3668Ala | |
| XM_011538771.2:c.10999C>G | XP_011537073.1:p.Pro3667Ala | |
| XM_011538772.2:c.10993C>G | XP_011537074.1:p.Pro3665Ala | |
| XM_011538773.2:c.10990C>G | XP_011537075.1:p.Pro3664Ala | |
| XM_011538774.2:c.10981C>G | XP_011537076.1:p.Pro3661Ala | |
| XM_011538776.2:c.10909C>G | XP_011537078.1:p.Pro3637Ala | |
| XR_001748874.1:n.12311C>G | ||
| NM_003482.4:c.10993C>G MANE Select | NP_003473.3:p.Pro3665Ala |