Linked Data
ClinVar Variation Id:
2108628
ClinVar RCV Id:
RCV003029525
dbSNP Id:
rs776352491
ExAC:
12:56398145 C / A
gnomAD v2:
12-56398145-C-A
gnomAD v4:
12-56004361-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56004361C>A , CM000674.2:g.56004361C>A | GRCh38 |
| NC_000012.11:g.56398145C>A , CM000674.1:g.56398145C>A | GRCh37 |
| NC_000012.10:g.54684412C>A | NCBI36 |
| NG_008136.1:g.12103C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.972C>A MANE Select | ENSP00000266971.3:p.Asp324Glu | |
| ENST00000266971.7:c.972C>A | ENSP00000266971.3:p.Asp324Glu | |
| ENST00000356124.8:c.972C>A | ENSP00000348440.4:p.Asp324Glu | |
| ENST00000394109.7:c.972C>A | ENSP00000377668.3:p.Asp324Glu | |
| ENST00000394115.6:c.972C>A | ENSP00000377674.2:p.Asp324Glu | |
| ENST00000548274.5:c.972C>A | ENSP00000450245.1:p.Asp324Glu | |
| ENST00000550065.1:c.972C>A | ENSP00000450264.1:p.Asp324Glu | |
| ENST00000551841.6:c.*160C>A | ENSP00000449443.1:n.*160C>A | |
| NM_000456.2:c.972C>A | NP_000447.2:p.Asp324Glu | |
| NM_001032386.1:c.972C>A | NP_001027558.1:p.Asp324Glu | |
| NM_001032387.1:c.972C>A | NP_001027559.1:p.Asp324Glu | |
| XM_005269112.1:c.993C>A | XP_005269169.1:p.Asp331Glu | |
| XM_017019905.2:c.993C>A | XP_016875394.1:p.Asp331Glu | |
| XM_017019906.1:c.993C>A | XP_016875395.1:p.Asp331Glu | |
| XM_017019907.2:c.972C>A | XP_016875396.1:p.Asp324Glu | |
| XM_017019908.1:c.972C>A | XP_016875397.1:p.Asp324Glu | |
| XM_024449167.1:c.993C>A | XP_024304935.1:p.Asp331Glu | |
| NM_001032386.2:c.972C>A MANE Select | NP_001027558.1:p.Asp324Glu | |
| NM_000456.3:c.972C>A | NP_000447.2:p.Asp324Glu | |
| NM_001032387.2:c.972C>A | NP_001027559.1:p.Asp324Glu |