Linked Data
ClinVar Variation Id:
5210
dbSNP Id:
rs72550870
ExAC:
1:11106666 T / C
gnomAD v2:
1-11106666-T-C
gnomAD v3:
1-11046609-T-C
gnomAD v4:
1-11046609-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11046609T>C , CM000663.2:g.11046609T>C | GRCh38 |
| NC_000001.10:g.11106666T>C , CM000663.1:g.11106666T>C | GRCh37 |
| NC_000001.9:g.11029253T>C | NCBI36 |
| NG_007289.1:g.5620A>G | |
| NG_007289.2:g.5620A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699958.1:c.359A>G | ENSP00000514717.1:p.Asp120Gly | |
| ENST00000700088.1:c.359A>G | ENSP00000514787.1:p.Asp120Gly | |
| ENST00000700089.1:c.359A>G | ENSP00000514788.1:p.Asp120Gly | |
| ENST00000700090.1:c.359A>G | ENSP00000514789.1:p.Asp120Gly | |
| ENST00000700091.1:c.359A>G | ENSP00000514790.1:p.Asp120Gly | |
| ENST00000700092.1:c.359A>G | ENSP00000514791.1:p.Asp120Gly | |
| ENST00000700093.1:c.359A>G | ENSP00000514792.1:p.Asp120Gly | |
| ENST00000700094.1:c.359A>G | ENSP00000514793.1:p.Asp120Gly | |
| ENST00000700095.1:c.359A>G | ENSP00000514794.1:p.Asp120Gly | |
| ENST00000700096.1:c.359A>G | ENSP00000514795.1:p.Asp120Gly | |
| ENST00000700097.1:c.359A>G | ENSP00000514796.1:p.Asp120Gly | |
| ENST00000400897.8:c.359A>G MANE Select | ENSP00000383690.3:p.Asp120Gly | |
| ENST00000400897.7:c.359A>G | ENSP00000383690.3:p.Asp120Gly | |
| ENST00000400898.3:c.359A>G | ENSP00000383691.3:p.Asp120Gly | |
| ENST00000480221.1:n.379A>G | ||
| NM_006610.3:c.359A>G | NP_006601.2:p.Asp120Gly | |
| NM_139208.2:c.359A>G | NP_631947.1:p.Asp120Gly | |
| XM_017000097.1:c.359A>G | XP_016855586.1:p.Asp120Gly | |
| XR_001736931.1:n.391A>G | ||
| XR_001736932.1:n.391A>G | ||
| XR_002958895.1:n.391A>G | ||
| NM_006610.4:c.359A>G MANE Select | NP_006601.2:p.Asp120Gly | |
| NM_139208.3:c.359A>G | NP_631947.1:p.Asp120Gly |