Linked Data
ClinVar Variation Id:
2983159
dbSNP Id:
rs372221992
ExAC:
10:101611295 C / T
gnomAD v2:
10-101611295-C-T
gnomAD v3:
10-99851538-C-T
gnomAD v4:
10-99851538-C-T
COSMIC:
COSM913832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851538C>T , CM000672.2:g.99851538C>T | GRCh38 |
| NC_000010.10:g.101611295C>T , CM000672.1:g.101611295C>T | GRCh37 |
| NC_000010.9:g.101601285C>T | NCBI36 |
| NG_011798.1:g.73833C>T | |
| NG_011798.2:g.73941C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4545C>T MANE Select | ENSP00000497274.1:p.Cys1515= | |
| ENST00000648523.1:c.615C>T | ||
| ENST00000370449.8:c.4545C>T | ENSP00000359478.4:p.Cys1515= | |
| NM_000392.4:c.4545C>T | NP_000383.1:p.Cys1515= | |
| XM_006717630.2:c.3849C>T | XP_006717693.1:p.Cys1283= | |
| NM_000392.5:c.4545C>T MANE Select | NP_000383.2:p.Cys1515= | |
| XM_006717630.3:c.3849C>T | XP_006717693.1:p.Cys1283= |