Linked Data
dbSNP Id:
rs752423600
ExAC:
9:117166349 T / C
gnomAD v2:
9-117166349-T-C
gnomAD v4:
9-114404069-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114404069T>C , CM000671.2:g.114404069T>C | GRCh38 |
| NC_000009.11:g.117166349T>C , CM000671.1:g.117166349T>C | GRCh37 |
| NC_000009.10:g.116206170T>C | NCBI36 |
| NG_016700.1:g.106388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.589A>G | ENSP00000514396.1:p.Thr197Ala | |
| ENST00000362057.4:c.2245A>G MANE Select | ENSP00000354623.3:p.Thr749Ala | |
| ENST00000674036.8:c.1218A>G | ||
| ENST00000674048.1:n.2126A>G | ||
| ENST00000265134.10:c.1096A>G | ENSP00000265134.6:p.Thr366Ala | |
| ENST00000362057.3:c.2245A>G | ENSP00000354623.3:p.Thr749Ala | |
| ENST00000374059.7:c.1192A>G | ENSP00000363172.3:p.Thr398Ala | |
| NM_001083885.2:c.1096A>G | NP_001077354.2:p.Thr366Ala | |
| NM_001173425.1:c.2242A>G | NP_001166896.1:p.Thr748Ala | |
| NM_015404.3:c.2245A>G | NP_056219.3:p.Thr749Ala | |
| XM_005251897.3:c.1582A>G | XP_005251954.2:p.Thr528Ala | |
| XM_011518484.1:c.2278A>G | XP_011516786.1:p.Thr760Ala | |
| XM_011518485.1:c.2278A>G | XP_011516787.1:p.Thr760Ala | |
| XM_011518486.1:c.2275A>G | XP_011516788.1:p.Thr759Ala | |
| XM_011518487.1:c.2152A>G | XP_011516789.1:p.Thr718Ala | |
| XM_011518488.1:c.2035A>G | XP_011516790.1:p.Thr679Ala | |
| XM_011518495.1:c.955A>G | XP_011516797.1:p.Thr319Ala | |
| XR_929747.1:n.3182A>G | ||
| XR_929748.1:n.3080A>G | ||
| NM_001346890.1:c.1192A>G | NP_001333819.1:p.Thr398Ala | |
| XM_011518486.2:c.2275A>G | XP_011516788.1:p.Thr759Ala | |
| XM_011518487.2:c.2152A>G | XP_011516789.1:p.Thr718Ala | |
| XM_011518488.2:c.2035A>G | XP_011516790.1:p.Thr679Ala | |
| XR_929747.2:n.2493A>G | ||
| XR_929748.2:n.2391A>G | ||
| NM_015404.4:c.2245A>G MANE Select | NP_056219.3:p.Thr749Ala | |
| NM_001173425.2:c.2242A>G | NP_001166896.1:p.Thr748Ala | |
| NM_001083885.3:c.1096A>G | NP_001077354.2:p.Thr366Ala |