Linked Data
ClinVar Variation Id:
3199527
ClinVar RCV Id:
RCV004490360
dbSNP Id:
rs770828140
ExAC:
19:13928099 T / C
gnomAD v2:
19-13928099-T-C
gnomAD v3:
19-13817285-T-C
gnomAD v4:
19-13817285-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13817285T>C , CM000681.2:g.13817285T>C | GRCh38 |
| NC_000019.9:g.13928099T>C , CM000681.1:g.13928099T>C | GRCh37 |
| NC_000019.8:g.13789099T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590508.6:c.1601T>C MANE Select | ENSP00000468285.2:p.Ile534Thr | |
| ENST00000254323.6:c.1250T>C | ENSP00000254323.2:p.Ile417Thr | |
| ENST00000590508.5:c.977T>C | ENSP00000468285.1:p.Ile326Thr | |
| NM_023072.2:c.1250T>C | NP_075560.2:p.Ile417Thr | |
| XM_005260023.2:c.1601T>C | XP_005260080.1:p.Ile534Thr | |
| XM_011528191.1:c.1602T>C | XP_011526493.1:p.His534= | |
| XM_005260023.3:c.1601T>C | XP_005260080.1:p.Ile534Thr | |
| XM_017027153.1:c.1649T>C | XP_016882642.1:p.Ile550Thr | |
| XM_017027154.1:c.1580T>C | XP_016882643.1:p.Ile527Thr | |
| XM_017027155.1:c.1481T>C | XP_016882644.1:p.Ile494Thr | |
| XM_017027156.1:c.1067T>C | XP_016882645.1:p.Ile356Thr | |
| XM_017027157.1:c.1649T>C | XP_016882646.1:p.Ile550Thr | |
| XM_024451657.1:c.1409T>C | XP_024307425.1:p.Ile470Thr | |
| NM_001367834.1:c.1601T>C | NP_001354763.1:p.Ile534Thr | |
| NM_001367834.2:c.1601T>C | NP_001354763.1:p.Ile534Thr | |
| NM_023072.3:c.1250T>C | NP_075560.2:p.Ile417Thr | |
| NM_001367834.3:c.1601T>C MANE Select | NP_001354763.1:p.Ile534Thr |