Linked Data
ClinVar Variation Id:
163047
dbSNP Id:
rs182072601
ExAC:
9:117170247 C / T
gnomAD v2:
9-117170247-C-T
gnomAD v3:
9-114407967-C-T
gnomAD v4:
9-114407967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114407967C>T , CM000671.2:g.114407967C>T | GRCh38 |
| NC_000009.11:g.117170247C>T , CM000671.1:g.117170247C>T | GRCh37 |
| NC_000009.10:g.116210068C>T | NCBI36 |
| NG_016700.1:g.102490G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362057.4:c.1678G>A MANE Select | ENSP00000354623.3:p.Ala560Thr | |
| ENST00000673811.1:n.2402G>A | ||
| ENST00000674036.8:c.651G>A | ||
| ENST00000674048.1:n.1559G>A | ||
| ENST00000265134.10:c.529G>A | ENSP00000265134.6:p.Ala177Thr | |
| ENST00000362057.3:c.1678G>A | ENSP00000354623.3:p.Ala560Thr | |
| ENST00000374059.7:c.625G>A | ENSP00000363172.3:p.Ala209Thr | |
| NM_001083885.2:c.529G>A | NP_001077354.2:p.Ala177Thr | |
| NM_001173425.1:c.1678G>A | NP_001166896.1:p.Ala560Thr | |
| NM_015404.3:c.1678G>A | NP_056219.3:p.Ala560Thr | |
| XM_005251897.3:c.1015G>A | XP_005251954.2:p.Ala339Thr | |
| XM_011518484.1:c.1711G>A | XP_011516786.1:p.Ala571Thr | |
| XM_011518485.1:c.1711G>A | XP_011516787.1:p.Ala571Thr | |
| XM_011518486.1:c.1711G>A | XP_011516788.1:p.Ala571Thr | |
| XM_011518487.1:c.1585G>A | XP_011516789.1:p.Ala529Thr | |
| XM_011518488.1:c.1468G>A | XP_011516790.1:p.Ala490Thr | |
| XM_011518492.1:c.*63G>A | XP_011516794.1:n.*63G>A | |
| XM_011518495.1:c.388G>A | XP_011516797.1:p.Ala130Thr | |
| XR_929747.1:n.2615G>A | ||
| XR_929748.1:n.2513G>A | ||
| XR_929750.1:n.2614G>A | ||
| XR_929751.1:n.2521G>A | ||
| XR_929757.1:n.2488G>A | ||
| NM_001346890.1:c.625G>A | NP_001333819.1:p.Ala209Thr | |
| XM_011518486.2:c.1711G>A | XP_011516788.1:p.Ala571Thr | |
| XM_011518487.2:c.1585G>A | XP_011516789.1:p.Ala529Thr | |
| XM_011518488.2:c.1468G>A | XP_011516790.1:p.Ala490Thr | |
| XM_011518492.2:c.*63G>A | XP_011516794.1:n.*63G>A | |
| XR_929747.2:n.1926G>A | ||
| XR_929748.2:n.1824G>A | ||
| XR_929750.3:n.1925G>A | ||
| XR_929757.2:n.1799G>A | ||
| NM_015404.4:c.1678G>A MANE Select | NP_056219.3:p.Ala560Thr | |
| NM_001173425.2:c.1678G>A | NP_001166896.1:p.Ala560Thr | |
| NM_001083885.3:c.529G>A | NP_001077354.2:p.Ala177Thr |