Linked Data
ClinVar Variation Id:
211073
dbSNP Id:
rs759072800
ExAC:
7:44190668 C / T
gnomAD v2:
7-44190668-C-T
gnomAD v4:
7-44151069-C-T
ERepo:
CA206547/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44151069C>T , CM000669.2:g.44151069C>T | GRCh38 |
| NC_000007.13:g.44190668C>T , CM000669.1:g.44190668C>T | GRCh37 |
| NC_000007.12:g.44157193C>T | NCBI36 |
| NG_008847.1:g.43355G>A | |
| NG_008847.2:g.52102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*368G>A | ENSP00000379142.4:n.*368G>A | |
| ENST00000616242.5:c.370G>A | ENSP00000482149.2:p.Asp124Asn | |
| ENST00000682635.1:n.856G>A | ||
| ENST00000345378.7:c.373G>A | ENSP00000223366.2:p.Asp125Asn | |
| ENST00000403799.8:c.370G>A MANE Select | ENSP00000384247.3:p.Asp124Asn | |
| ENST00000671824.1:c.370G>A | ENSP00000500264.1:p.Asp124Asn | |
| ENST00000673284.1:c.370G>A | ENSP00000499852.1:p.Asp124Asn | |
| ENST00000345378.6:c.373G>A | ENSP00000223366.2:p.Asp125Asn | |
| ENST00000395796.7:c.367G>A | ENSP00000379142.3:p.Asp123Asn | |
| ENST00000403799.7:c.370G>A | ENSP00000384247.3:p.Asp124Asn | |
| ENST00000437084.1:c.364-45G>A | ENSP00000402840.1:n.364-45G>A | |
| ENST00000616242.4:c.367G>A | ENSP00000482149.1:p.Asp123Asn | |
| NM_000162.3:c.370G>A | NP_000153.1:p.Asp124Asn | |
| NM_033507.1:c.373G>A | NP_277042.1:p.Asp125Asn | |
| NM_033508.1:c.367G>A | NP_277043.1:p.Asp123Asn | |
| NM_000162.4:c.370G>A | NP_000153.1:p.Asp124Asn | |
| NM_001354800.1:c.370G>A | NP_001341729.1:p.Asp124Asn | |
| NM_033507.2:c.373G>A | NP_277042.1:p.Asp125Asn | |
| NM_033508.2:c.367G>A | NP_277043.1:p.Asp123Asn | |
| NM_000162.5:c.370G>A MANE Select | NP_000153.1:p.Asp124Asn | |
| NM_033507.3:c.373G>A | NP_277042.1:p.Asp125Asn | |
| NM_033508.3:c.367G>A | NP_277043.1:p.Asp123Asn |