Linked Data
ClinVar Variation Id:
2832473
ClinVar RCV Id:
RCV003689517
gnomAD v4:
10-99844453-T-C
MyVariant Identifiers:
chr10:g.101604210T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844453T>C , CM000672.2:g.99844453T>C | GRCh38 |
| NC_000010.10:g.101604210T>C , CM000672.1:g.101604210T>C | GRCh37 |
| NC_000010.9:g.101594200T>C | NCBI36 |
| NG_011798.1:g.66748T>C | |
| NG_011798.2:g.66856T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3975T>C MANE Select | ENSP00000497274.1:p.Gly1325= | |
| ENST00000649459.1:n.323T>C | ||
| ENST00000370449.8:c.3975T>C | ENSP00000359478.4:p.Gly1325= | |
| NM_000392.4:c.3975T>C | NP_000383.1:p.Gly1325= | |
| XM_006717630.2:c.3279T>C | XP_006717693.1:p.Gly1093= | |
| XR_945604.1:n.4164T>C | ||
| XR_945605.1:n.4039T>C | ||
| NM_000392.5:c.3975T>C MANE Select | NP_000383.2:p.Gly1325= | |
| XM_006717630.3:c.3279T>C | XP_006717693.1:p.Gly1093= | |
| XR_945604.3:n.4218T>C | ||
| XR_945605.3:n.4091T>C |