Linked Data
dbSNP Id:
rs1462427026
gnomAD v2:
1-173873183-T-C
gnomAD v3:
1-173904045-T-C
gnomAD v4:
1-173904045-T-C
MyVariant Identifiers:
chr1:g.173873183T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904045T>C , CM000663.2:g.173904045T>C | GRCh38 |
| NC_000001.10:g.173873183T>C , CM000663.1:g.173873183T>C | GRCh37 |
| NC_000001.9:g.172139806T>C | NCBI36 |
| NG_012462.1:g.18334A>G , LRG_577:g.18334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1239A>G MANE Select | ENSP00000356671.3:p.Glu413= | |
| ENST00000367698.3:c.1239A>G | ENSP00000356671.3:p.Glu413= | |
| ENST00000617423.4:c.624A>G | ENSP00000478688.1:p.Glu208= | |
| NM_000488.3:c.1239A>G , LRG_577t1:c.1239A>G | NP_000479.1:p.Glu413= | |
| XM_005245198.2:c.1095A>G | XP_005245255.1:p.Glu365= | |
| NM_001365052.1:c.1095A>G | NP_001351981.1:p.Glu365= | |
| NM_000488.4:c.1239A>G MANE Select | NP_000479.1:p.Glu413= | |
| NM_001365052.2:c.1095A>G | NP_001351981.1:p.Glu365= | |
| NM_001386302.1:c.1362A>G | NP_001373231.1:p.Glu454= | |
| NM_001386303.1:c.1320A>G | NP_001373232.1:p.Glu440= | |
| NM_001386304.1:c.1218A>G | NP_001373233.1:p.Glu406= | |
| NM_001386305.1:c.1182A>G | NP_001373234.1:p.Glu394= | |
| NM_001386306.1:c.1023A>G | NP_001373235.1:p.Glu341= |