Linked Data
ClinVar Variation Id:
21764
dbSNP Id:
rs117067974
ExAC:
20:62045527 C / G
gnomAD v2:
20-62045527-C-G
gnomAD v3:
20-63414174-C-G
gnomAD v4:
20-63414174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63414174C>G , CM000682.2:g.63414174C>G | GRCh38 |
| NC_000020.10:g.62045527C>G , CM000682.1:g.62045527C>G | GRCh37 |
| NC_000020.9:g.61515971C>G | NCBI36 |
| NG_009004.1:g.63467G>C | |
| NG_009004.2:g.63467G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1491G>C | ENSP00000516702.1:p.Glu497Asp | |
| ENST00000359125.7:c.1545G>C MANE Select | ENSP00000352035.2:p.Glu515Asp | |
| ENST00000637193.1:c.942G>C | ENSP00000490734.1:p.Glu314Asp | |
| ENST00000344462.8:c.1452G>C | ENSP00000339611.4:p.Glu484Asp | |
| ENST00000357249.6:c.1113G>C | ENSP00000349789.3:p.Glu371Asp | |
| ENST00000359125.6:c.1545G>C | ENSP00000352035.2:p.Glu515Asp | |
| ENST00000360480.7:c.1461G>C | ENSP00000353668.3:p.Glu487Asp | |
| ENST00000370224.5:c.1461G>C | ENSP00000359244.2:p.Glu487Asp | |
| ENST00000625514.2:c.1425G>C | ENSP00000486040.1:p.Glu475Asp | |
| ENST00000626839.2:c.1491G>C | ENSP00000486706.1:p.Glu497Asp | |
| ENST00000627221.2:c.602G>C | ||
| ENST00000629241.2:c.1461G>C | ENSP00000487142.1:p.Glu487Asp | |
| ENST00000629318.1:c.153G>C | ENSP00000487384.1:p.Glu51Asp | |
| ENST00000629676.2:c.1461G>C | ENSP00000486194.1:p.Glu487Asp | |
| NM_004518.4:c.1461G>C | NP_004509.2:p.Glu487Asp | |
| NM_172106.1:c.1491G>C | NP_742104.1:p.Glu497Asp | |
| NM_172107.2:c.1545G>C | NP_742105.1:p.Glu515Asp | |
| NM_172108.3:c.1452G>C | NP_742106.1:p.Glu484Asp | |
| XM_006723787.1:c.1545G>C | XP_006723850.1:p.Glu515Asp | |
| XM_011528807.1:c.1545G>C | XP_011527109.1:p.Glu515Asp | |
| XM_011528808.1:c.1542G>C | XP_011527110.1:p.Glu514Asp | |
| XM_011528809.1:c.1515G>C | XP_011527111.1:p.Glu505Asp | |
| XM_011528810.1:c.1491G>C | XP_011527112.1:p.Glu497Asp | |
| XM_011528811.1:c.1461G>C | XP_011527113.1:p.Glu487Asp | |
| XM_011528812.1:c.1542G>C | XP_011527114.1:p.Glu514Asp | |
| XM_011528813.1:c.1419G>C | XP_011527115.1:p.Glu473Asp | |
| XM_011528814.1:c.1026G>C | XP_011527116.1:p.Glu342Asp | |
| XM_011528815.1:c.1545G>C | XP_011527117.1:p.Glu515Asp | |
| NM_004518.5:c.1461G>C | NP_004509.2:p.Glu487Asp | |
| NM_172106.2:c.1491G>C | NP_742104.1:p.Glu497Asp | |
| NM_172107.3:c.1545G>C | NP_742105.1:p.Glu515Asp | |
| NM_172108.4:c.1452G>C | NP_742106.1:p.Glu484Asp | |
| XM_011528810.2:c.1491G>C | XP_011527112.1:p.Glu497Asp | |
| XM_011528811.2:c.1461G>C | XP_011527113.1:p.Glu487Asp | |
| XM_017027841.2:c.1488G>C | XP_016883330.1:p.Glu496Asp | |
| XM_017027842.2:c.1491G>C | XP_016883331.1:p.Glu497Asp | |
| XM_017027843.1:c.1422G>C | XP_016883332.1:p.Glu474Asp | |
| XM_017027844.2:c.1488G>C | XP_016883333.1:p.Glu496Asp | |
| XM_017027845.1:c.453G>C | XP_016883334.1:p.Glu151Asp | |
| NM_004518.6:c.1461G>C | NP_004509.2:p.Glu487Asp | |
| NM_172106.3:c.1491G>C | NP_742104.1:p.Glu497Asp | |
| NM_172107.4:c.1545G>C MANE Select | NP_742105.1:p.Glu515Asp | |
| NM_172108.5:c.1452G>C | NP_742106.1:p.Glu484Asp | |
| NM_001382235.1:c.1491G>C | NP_001369164.1:p.Glu497Asp |