Linked Data
ClinVar Variation Id:
2170646
ClinVar RCV Id:
RCV003080638
MyVariant Identifiers:
chr1:g.24129043G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23802553G>A , CM000663.2:g.23802553G>A | GRCh38 |
| NC_000001.10:g.24129043G>A , CM000663.1:g.24129043G>A | GRCh37 |
| NC_000001.9:g.24001630G>A | NCBI36 |
| NG_007068.1:g.3252C>T | |
| NG_013061.1:g.27907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.888C>T MANE Select | ENSP00000363614.3:p.Leu296= | |
| ENST00000235958.4:c.458C>T | ||
| ENST00000374487.6:c.*929C>T | ENSP00000363611.2:n.*929C>T | |
| ENST00000374490.7:c.888C>T | ENSP00000363614.3:p.Leu296= | |
| ENST00000436439.6:c.675C>T | ENSP00000389281.2:p.Leu225= | |
| NM_000191.2:c.888C>T | NP_000182.2:p.Leu296= | |
| NM_001166059.1:c.675C>T | NP_001159531.1:p.Leu225= | |
| NM_000191.3:c.888C>T MANE Select | NP_000182.2:p.Leu296= | |
| NM_001166059.2:c.675C>T | NP_001159531.1:p.Leu225= |