Linked Data
ClinVar Variation Id:
364684
dbSNP Id:
rs781674400
ExAC:
9:117168741 G / T
gnomAD v2:
9-117168741-G-T
gnomAD v3:
9-114406461-G-T
gnomAD v4:
9-114406461-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406461G>T , CM000671.2:g.114406461G>T | GRCh38 |
| NC_000009.11:g.117168741G>T , CM000671.1:g.117168741G>T | GRCh37 |
| NC_000009.10:g.116208562G>T | NCBI36 |
| NG_016700.1:g.103996C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.474C>A | ENSP00000514396.1:p.Gly158= | |
| ENST00000362057.4:c.2130C>A MANE Select | ENSP00000354623.3:p.Gly710= | |
| ENST00000674036.8:c.1103C>A | ||
| ENST00000674048.1:n.2011C>A | ||
| ENST00000265134.10:c.981C>A | ENSP00000265134.6:p.Gly327= | |
| ENST00000362057.3:c.2130C>A | ENSP00000354623.3:p.Gly710= | |
| ENST00000374059.7:c.1077C>A | ENSP00000363172.3:p.Gly359= | |
| NM_001083885.2:c.981C>A | NP_001077354.2:p.Gly327= | |
| NM_001173425.1:c.2130C>A | NP_001166896.1:p.Gly710= | |
| NM_015404.3:c.2130C>A | NP_056219.3:p.Gly710= | |
| XM_005251897.3:c.1467C>A | XP_005251954.2:p.Gly489= | |
| XM_011518484.1:c.2163C>A | XP_011516786.1:p.Gly721= | |
| XM_011518485.1:c.2163C>A | XP_011516787.1:p.Gly721= | |
| XM_011518486.1:c.2163C>A | XP_011516788.1:p.Gly721= | |
| XM_011518487.1:c.2037C>A | XP_011516789.1:p.Gly679= | |
| XM_011518488.1:c.1920C>A | XP_011516790.1:p.Gly640= | |
| XM_011518495.1:c.840C>A | XP_011516797.1:p.Gly280= | |
| XR_929747.1:n.3067C>A | ||
| XR_929748.1:n.2965C>A | ||
| NM_001346890.1:c.1077C>A | NP_001333819.1:p.Gly359= | |
| XM_011518486.2:c.2163C>A | XP_011516788.1:p.Gly721= | |
| XM_011518487.2:c.2037C>A | XP_011516789.1:p.Gly679= | |
| XM_011518488.2:c.1920C>A | XP_011516790.1:p.Gly640= | |
| XR_929747.2:n.2378C>A | ||
| XR_929748.2:n.2276C>A | ||
| NM_015404.4:c.2130C>A MANE Select | NP_056219.3:p.Gly710= | |
| NM_001173425.2:c.2130C>A | NP_001166896.1:p.Gly710= | |
| NM_001083885.3:c.981C>A | NP_001077354.2:p.Gly327= |