Linked Data
ClinVar Variation Id:
3002969
ClinVar RCV Id:
RCV003860560
gnomAD v4:
10-67811530-C-T
MyVariant Identifiers:
chr10:g.69571288C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811530C>T , CM000672.2:g.67811530C>T | GRCh38 |
| NC_000010.10:g.69571288C>T , CM000672.1:g.69571288C>T | GRCh37 |
| NC_000010.9:g.69241294C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.291G>A MANE Select | ENSP00000225171.2:p.Val97= | |
| ENST00000225171.6:c.291G>A | ENSP00000225171.2:p.Val97= | |
| ENST00000339758.7:c.291G>A | ENSP00000343575.6:p.Val97= | |
| ENST00000480180.1:c.*310G>A | ENSP00000474804.1:n.*310G>A | |
| ENST00000480963.5:c.*211G>A | ENSP00000473979.1:n.*211G>A | |
| ENST00000483798.6:c.381G>A | ENSP00000474215.1:p.Val127= | |
| NM_021800.2:c.291G>A | NP_068572.1:p.Val97= | |
| NM_201262.1:c.291G>A | NP_957714.1:p.Val97= | |
| XM_011539967.1:c.321G>A | XP_011538269.1:p.Val107= | |
| XM_017016431.1:c.45G>A | XP_016871920.1:p.Val15= | |
| XM_017016432.2:c.45G>A | XP_016871921.1:p.Val15= | |
| NM_021800.3:c.291G>A MANE Select | NP_068572.1:p.Val97= | |
| NM_201262.2:c.291G>A | NP_957714.1:p.Val97= |