Linked Data
ClinVar Variation Id:
1879769
ClinVar RCV Id:
RCV002512414
dbSNP Id:
rs755797934
ExAC:
X:73749178 T / C
gnomAD v2:
X-73749178-T-C
gnomAD v3:
X-74529343-T-C
gnomAD v4:
X-74529343-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529343T>C , CM000685.2:g.74529343T>C | GRCh38 |
| NC_000023.10:g.73749178T>C , CM000685.1:g.73749178T>C | GRCh37 |
| NC_000023.9:g.73665903T>C | NCBI36 |
| NG_011641.1:g.113094T>C | |
| NG_011641.2:g.113094T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1301T>C MANE Select | ENSP00000465734.1:p.Ile434Thr | |
| ENST00000636771.1:c.1210T>C | ||
| ENST00000587091.5:c.1301T>C | ENSP00000465734.1:p.Ile434Thr | |
| ENST00000590447.1:c.611-1990T>C | ||
| NM_006517.4:c.1301T>C | NP_006508.2:p.Ile434Thr | |
| XM_005262294.1:c.1171-1990T>C | XP_005262351.1:n.1171-1990T>C | |
| NM_006517.5:c.1301T>C MANE Select | NP_006508.2:p.Ile434Thr |