Linked Data
ClinVar Variation Id:
346299
dbSNP Id:
rs112750785
ExAC:
3:57994540 G / A
gnomAD v2:
3-57994540-G-A
gnomAD v3:
3-58008813-G-A
gnomAD v4:
3-58008813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58008813G>A , CM000665.2:g.58008813G>A | GRCh38 |
| NC_000003.11:g.57994540G>A , CM000665.1:g.57994540G>A | GRCh37 |
| NC_000003.10:g.57969580G>A | NCBI36 |
| NG_012801.1:g.5414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682097.1:c.249G>A | ENSP00000508183.1:p.Ala83= | |
| ENST00000682868.1:n.392G>A | ||
| ENST00000682871.1:c.249G>A | ENSP00000507805.1:p.Ala83= | |
| ENST00000682987.1:n.392G>A | ||
| ENST00000683511.1:n.408G>A | ||
| ENST00000684107.1:c.249G>A | ENSP00000507440.1:p.Ala83= | |
| ENST00000684506.1:c.249G>A | ENSP00000507728.1:p.Ala83= | |
| ENST00000684517.1:c.249G>A | ENSP00000507828.1:p.Ala83= | |
| ENST00000684607.1:c.249G>A | ENSP00000508224.1:p.Ala83= | |
| ENST00000295956.9:c.249G>A MANE Select | ENSP00000295956.5:p.Ala83= | |
| ENST00000295956.8:c.249G>A | ENSP00000295956.4:p.Ala83= | |
| ENST00000358537.7:c.249G>A | ENSP00000351339.3:p.Ala83= | |
| ENST00000429972.6:c.249G>A | ENSP00000415599.2:p.Ala83= | |
| ENST00000490882.5:c.249G>A | ENSP00000420213.1:p.Ala83= | |
| NM_001164317.1:c.249G>A | NP_001157789.1:p.Ala83= | |
| NM_001164318.1:c.249G>A | NP_001157790.1:p.Ala83= | |
| NM_001164319.1:c.249G>A | NP_001157791.1:p.Ala83= | |
| NM_001457.3:c.249G>A | NP_001448.2:p.Ala83= | |
| XM_005264977.1:c.249G>A | XP_005265034.1:p.Ala83= | |
| XM_005264978.1:c.249G>A | XP_005265035.1:p.Ala83= | |
| XM_005264981.1:c.249G>A | XP_005265038.1:p.Ala83= | |
| XR_940396.1:n.394G>A | ||
| XM_005264978.2:c.249G>A | XP_005265035.1:p.Ala83= | |
| XR_001740065.1:n.394G>A | ||
| XR_940396.2:n.394G>A | ||
| NM_001164317.2:c.249G>A | NP_001157789.1:p.Ala83= | |
| NM_001164318.2:c.249G>A | NP_001157790.1:p.Ala83= | |
| NM_001164319.2:c.249G>A | NP_001157791.1:p.Ala83= | |
| NM_001457.4:c.249G>A MANE Select | NP_001448.2:p.Ala83= |