Linked Data
ClinVar Variation Id:
21734
dbSNP Id:
rs2277598
ExAC:
15:73027478 T / C
gnomAD v2:
15-73027478-T-C
gnomAD v3:
15-72735137-T-C
gnomAD v4:
15-72735137-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72735137T>C , CM000677.2:g.72735137T>C | GRCh38 |
| NC_000015.9:g.73027478T>C , CM000677.1:g.73027478T>C | GRCh37 |
| NC_000015.8:g.70814531T>C | NCBI36 |
| NG_009416.2:g.53953T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268057.9:c.1061T>C MANE Select | ENSP00000268057.4:p.Ile354Thr | |
| ENST00000268057.8:c.1061T>C | ENSP00000268057.4:p.Ile354Thr | |
| ENST00000395205.6:c.545T>C | ENSP00000378631.3:p.Ile182Thr | |
| ENST00000562084.5:c.*1140T>C | ENSP00000454718.1:n.*1140T>C | |
| ENST00000562219.1:n.496T>C | ||
| ENST00000566197.1:c.106T>C | ||
| ENST00000566400.5:c.*951T>C | ENSP00000456759.1:n.*951T>C | |
| ENST00000567279.5:c.*915T>C | ENSP00000456664.1:n.*915T>C | |
| ENST00000569151.1:n.195T>C | ||
| NM_001252678.1:c.545T>C | NP_001239607.1:p.Ile182Thr | |
| NM_033028.4:c.1061T>C | NP_149017.2:p.Ile354Thr | |
| NR_045565.1:n.1168T>C | ||
| NR_045566.1:n.1423T>C | ||
| XM_006720625.2:c.992T>C | XP_006720688.1:p.Ile331Thr | |
| XM_011521848.1:c.545T>C | XP_011520150.1:p.Ile182Thr | |
| XM_011521849.1:c.545T>C | XP_011520151.1:p.Ile182Thr | |
| XM_011521850.1:c.545T>C | XP_011520152.1:p.Ile182Thr | |
| XM_011521851.1:c.329T>C | XP_011520153.1:p.Ile110Thr | |
| NM_001320665.1:c.992T>C | NP_001307594.1:p.Ile331Thr | |
| XM_017022450.1:c.1016T>C | XP_016877939.1:p.Ile339Thr | |
| XM_017022452.1:c.545T>C | XP_016877941.1:p.Ile182Thr | |
| XM_017022453.1:c.545T>C | XP_016877942.1:p.Ile182Thr | |
| XM_017022454.1:c.545T>C | XP_016877943.1:p.Ile182Thr | |
| NM_033028.5:c.1061T>C MANE Select | NP_149017.2:p.Ile354Thr | |
| NM_001252678.2:c.545T>C | NP_001239607.1:p.Ile182Thr | |
| NM_001320665.2:c.992T>C | NP_001307594.1:p.Ile331Thr | |
| NR_045565.2:n.1140T>C | ||
| NR_045566.2:n.1395T>C |