Linked Data
dbSNP Id:
rs1243128219
gnomAD v2:
9-117168781-G-A
gnomAD v3:
9-114406501-G-A
gnomAD v4:
9-114406501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406501G>A , CM000671.2:g.114406501G>A | GRCh38 |
| NC_000009.11:g.117168781G>A , CM000671.1:g.117168781G>A | GRCh37 |
| NC_000009.10:g.116208602G>A | NCBI36 |
| NG_016700.1:g.103956C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699485.1:c.434C>T | ENSP00000514396.1:p.Thr145Ile | |
| ENST00000362057.4:c.2090C>T MANE Select | ENSP00000354623.3:p.Thr697Ile | |
| ENST00000674036.8:c.1063C>T | ||
| ENST00000674048.1:n.1971C>T | ||
| ENST00000265134.10:c.941C>T | ENSP00000265134.6:p.Thr314Ile | |
| ENST00000362057.3:c.2090C>T | ENSP00000354623.3:p.Thr697Ile | |
| ENST00000374059.7:c.1037C>T | ENSP00000363172.3:p.Thr346Ile | |
| NM_001083885.2:c.941C>T | NP_001077354.2:p.Thr314Ile | |
| NM_001173425.1:c.2090C>T | NP_001166896.1:p.Thr697Ile | |
| NM_015404.3:c.2090C>T | NP_056219.3:p.Thr697Ile | |
| XM_005251897.3:c.1427C>T | XP_005251954.2:p.Thr476Ile | |
| XM_011518484.1:c.2123C>T | XP_011516786.1:p.Thr708Ile | |
| XM_011518485.1:c.2123C>T | XP_011516787.1:p.Thr708Ile | |
| XM_011518486.1:c.2123C>T | XP_011516788.1:p.Thr708Ile | |
| XM_011518487.1:c.1997C>T | XP_011516789.1:p.Thr666Ile | |
| XM_011518488.1:c.1880C>T | XP_011516790.1:p.Thr627Ile | |
| XM_011518495.1:c.800C>T | XP_011516797.1:p.Thr267Ile | |
| XR_929747.1:n.3027C>T | ||
| XR_929748.1:n.2925C>T | ||
| NM_001346890.1:c.1037C>T | NP_001333819.1:p.Thr346Ile | |
| XM_011518486.2:c.2123C>T | XP_011516788.1:p.Thr708Ile | |
| XM_011518487.2:c.1997C>T | XP_011516789.1:p.Thr666Ile | |
| XM_011518488.2:c.1880C>T | XP_011516790.1:p.Thr627Ile | |
| XR_929747.2:n.2338C>T | ||
| XR_929748.2:n.2236C>T | ||
| NM_015404.4:c.2090C>T MANE Select | NP_056219.3:p.Thr697Ile | |
| NM_001173425.2:c.2090C>T | NP_001166896.1:p.Thr697Ile | |
| NM_001083885.3:c.941C>T | NP_001077354.2:p.Thr314Ile |