Linked Data
ClinVar Variation Id:
430081
ClinVar RCV Id:
RCV000493492
dbSNP Id:
rs140285782
ExAC:
4:126355577 T / C
gnomAD v2:
4-126355577-T-C
gnomAD v3:
4-125434422-T-C
gnomAD v4:
4-125434422-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125434422T>C , CM000666.2:g.125434422T>C | GRCh38 |
| NC_000004.11:g.126355577T>C , CM000666.1:g.126355577T>C | GRCh37 |
| NC_000004.10:g.126575027T>C | NCBI36 |
| NG_033865.1:g.123011T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394329.9:c.7196T>C MANE Select | ENSP00000377862.4:p.Ile2399Thr | |
| ENST00000674496.2:c.1967T>C | ENSP00000501473.2:p.Ile656Thr | |
| ENST00000335110.5:c.2090T>C | ENSP00000335169.5:p.Ile697Thr | |
| ENST00000394329.7:c.7196T>C | ENSP00000377862.3:p.Ile2399Thr | |
| NM_001291285.1:c.7196T>C | NP_001278214.1:p.Ile2399Thr | |
| NM_001291303.1:c.7196T>C | NP_001278232.1:p.Ile2399Thr | |
| NM_024582.4:c.7196T>C | NP_078858.4:p.Ile2399Thr | |
| XM_011532236.1:c.7196T>C | XP_011530538.1:p.Ile2399Thr | |
| XM_011532237.1:c.1967T>C | XP_011530539.1:p.Ile656Thr | |
| XM_011532236.2:c.7196T>C | XP_011530538.1:p.Ile2399Thr | |
| XM_011532237.2:c.1967T>C | XP_011530539.1:p.Ile656Thr | |
| NM_001291285.2:c.7196T>C | NP_001278214.1:p.Ile2399Thr | |
| NM_001291303.3:c.7196T>C MANE Select | NP_001278232.1:p.Ile2399Thr | |
| NM_024582.5:c.7196T>C | NP_078858.4:p.Ile2399Thr | |
| NM_001291285.3:c.7196T>C | NP_001278214.1:p.Ile2399Thr | |
| NM_024582.6:c.7196T>C | NP_078858.4:p.Ile2399Thr |