Linked Data
ClinVar Variation Id:
928062
ClinVar RCV Id:
RCV001191713
dbSNP Id:
rs1759622860
MyVariant Identifiers:
chr6:g.7585661T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585428T>G , CM000668.2:g.7585428T>G | GRCh38 |
| NC_000006.11:g.7585661T>G , CM000668.1:g.7585661T>G | GRCh37 |
| NC_000006.10:g.7530660T>G | NCBI36 |
| NG_008803.1:g.48792T>G , LRG_423:g.48792T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6837T>G | ENSP00000518230.1:p.Ala2279= | |
| ENST00000379802.8:c.8166T>G MANE Select | ENSP00000369129.3:p.Ala2722= | |
| ENST00000379802.7:c.8166T>G | ENSP00000369129.3:p.Ala2722= | |
| ENST00000418664.2:c.6369T>G | ENSP00000396591.2:p.Ala2123= | |
| NM_001008844.1:c.6369T>G | NP_001008844.1:p.Ala2123= | |
| NM_004415.2:c.8166T>G , LRG_423t1:c.8166T>G | NP_004406.2:p.Ala2722= | |
| XM_011514323.1:c.6837T>G | XP_011512625.1:p.Ala2279= | |
| NM_001008844.2:c.6369T>G | NP_001008844.1:p.Ala2123= | |
| NM_001319034.1:c.6837T>G | NP_001305963.1:p.Ala2279= | |
| NM_004415.3:c.8166T>G | NP_004406.2:p.Ala2722= | |
| NM_004415.4:c.8166T>G MANE Select | NP_004406.2:p.Ala2722= | |
| NM_001008844.3:c.6369T>G | NP_001008844.1:p.Ala2123= | |
| NM_001319034.2:c.6837T>G | NP_001305963.1:p.Ala2279= |