Linked Data
ClinVar Variation Id:
2447939
ClinVar RCV Id:
RCV004247455
gnomAD v4:
1-10324839-T-C
MyVariant Identifiers:
chr1:g.10384897T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10324839T>C , CM000663.2:g.10324839T>C | GRCh38 |
| NC_000001.10:g.10384897T>C , CM000663.1:g.10384897T>C | GRCh37 |
| NC_000001.9:g.10307484T>C | NCBI36 |
| NG_008069.1:g.119134T>C , LRG_252:g.119134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.2481T>C | ENSP00000512668.1:p.Thr827= | |
| ENST00000696503.1:c.2544T>C | ENSP00000512669.1:p.Thr848= | |
| ENST00000696504.1:c.2544T>C | ENSP00000512670.1:p.Thr848= | |
| ENST00000676179.1:c.2619T>C MANE Select | ENSP00000502065.1:p.Thr873= | |
| ENST00000263934.10:c.2481T>C | ENSP00000263934.6:p.Thr827= | |
| ENST00000377081.5:c.2619T>C | ENSP00000366284.1:p.Thr873= | |
| ENST00000377086.5:c.2619T>C | ENSP00000366290.1:p.Thr873= | |
| ENST00000620295.2:c.2577T>C | ENSP00000478500.1:p.Thr859= | |
| ENST00000622724.3:c.2541T>C | ENSP00000480063.1:p.Thr847= | |
| NM_015074.3:c.2481T>C , LRG_252t1:c.2481T>C | NP_055889.2:p.Thr827= | |
| NM_001365951.1:c.2619T>C | NP_001352880.1:p.Thr873= | |
| NM_001365952.1:c.2619T>C | NP_001352881.1:p.Thr873= | |
| NM_001365951.3:c.2619T>C MANE Select | NP_001352880.1:p.Thr873= |