Linked Data
ClinVar Variation Id:
1383874
ClinVar RCV Id:
RCV001895569
dbSNP Id:
rs777586354
ExAC:
1:155112469 G / A
gnomAD v2:
1-155112469-G-A
gnomAD v3:
1-155139993-G-A
gnomAD v4:
1-155139993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155139993G>A , CM000663.2:g.155139993G>A | GRCh38 |
| NC_000001.10:g.155112469G>A , CM000663.1:g.155112469G>A | GRCh37 |
| NC_000001.9:g.153379093G>A | NCBI36 |
| NG_012871.1:g.5528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368400.5:c.248C>T MANE Select | ENSP00000357385.5:p.Ala83Val | |
| ENST00000341298.3:c.248C>T | ENSP00000344338.3:p.Ala83Val | |
| ENST00000368399.1:c.338C>T | ENSP00000357384.1:p.Ala113Val | |
| ENST00000368400.4:c.248C>T | ENSP00000357385.4:p.Ala83Val | |
| NM_018973.3:c.338C>T | NP_061846.2:p.Ala113Val | |
| NM_153741.1:c.248C>T | NP_714963.1:p.Ala83Val | |
| XM_017001498.1:c.248C>T | XP_016856987.1:p.Ala83Val | |
| NM_153741.2:c.248C>T MANE Select | NP_714963.1:p.Ala83Val | |
| NM_018973.4:c.338C>T | NP_061846.2:p.Ala113Val |