Linked Data
ClinVar Variation Id:
314786
dbSNP Id:
rs150364664
ExAC:
14:88899508 T / C
gnomAD v2:
14-88899508-T-C
gnomAD v3:
14-88433164-T-C
gnomAD v4:
14-88433164-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88433164T>C , CM000676.2:g.88433164T>C | GRCh38 |
| NC_000014.8:g.88899508T>C , CM000676.1:g.88899508T>C | GRCh37 |
| NC_000014.7:g.87969261T>C | NCBI36 |
| NG_021183.1:g.52521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1112T>C MANE Select | ENSP00000377176.4:p.Ile371Thr | |
| ENST00000045347.11:c.1112T>C | ENSP00000045347.7:p.Ile371Thr | |
| ENST00000356583.9:c.1016T>C | ENSP00000348991.5:p.Ile339Thr | |
| ENST00000393545.8:c.1112T>C | ENSP00000377176.4:p.Ile371Thr | |
| ENST00000553303.1:n.542T>C | ||
| ENST00000553626.5:n.2891T>C | ||
| ENST00000554802.1:c.8T>C | ENSP00000451019.1:p.Ile3Thr | |
| ENST00000556406.5:c.85T>C | ||
| ENST00000556553.5:c.1016T>C | ENSP00000451128.1:p.Ile339Thr | |
| ENST00000556666.5:n.1659T>C | ||
| NM_001040428.3:c.1016T>C | NP_001035518.1:p.Ile339Thr | |
| NM_018418.4:c.1112T>C | NP_060888.2:p.Ile371Thr | |
| XM_005267851.1:c.1115T>C | XP_005267908.1:p.Ile372Thr | |
| XM_005267852.1:c.1019T>C | XP_005267909.1:p.Ile340Thr | |
| XM_005267854.1:c.923T>C | XP_005267911.1:p.Ile308Thr | |
| XM_005267855.1:c.923T>C | XP_005267912.1:p.Ile308Thr | |
| XM_006720204.1:c.1115T>C | XP_006720267.1:p.Ile372Thr | |
| XM_006720205.1:c.1115T>C | XP_006720268.1:p.Ile372Thr | |
| XM_011536951.1:c.962T>C | XP_011535253.1:p.Ile321Thr | |
| XM_011536952.1:c.944T>C | XP_011535254.1:p.Ile315Thr | |
| XM_011536953.1:c.797T>C | XP_011535255.1:p.Ile266Thr | |
| XM_005267852.2:c.1019T>C | XP_005267909.1:p.Ile340Thr | |
| XM_017021452.1:c.959T>C | XP_016876941.1:p.Ile320Thr | |
| XM_017021453.1:c.923T>C | XP_016876942.1:p.Ile308Thr | |
| XM_017021454.1:c.920T>C | XP_016876943.1:p.Ile307Thr | |
| XM_017021455.1:c.920T>C | XP_016876944.1:p.Ile307Thr | |
| XM_017021456.1:c.920T>C | XP_016876945.1:p.Ile307Thr | |
| XM_017021457.1:c.794T>C | XP_016876946.1:p.Ile265Thr | |
| XM_024449660.1:c.941T>C | XP_024305428.1:p.Ile314Thr | |
| XR_002957563.1:n.1293T>C | ||
| NM_018418.5:c.1112T>C MANE Select | NP_060888.2:p.Ile371Thr | |
| NM_001040428.4:c.1016T>C | NP_001035518.1:p.Ile339Thr |