Linked Data
dbSNP Id:
rs1851740667
gnomAD v3:
10-100990526-G-A
gnomAD v4:
10-100990526-G-A
MyVariant Identifiers:
chr10:g.102750283G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100990526G>A , CM000672.2:g.100990526G>A | GRCh38 |
| NC_000010.10:g.102750283G>A , CM000672.1:g.102750283G>A | GRCh37 |
| NC_000010.9:g.102740273G>A | NCBI36 |
| NG_011646.1:g.1990C>T | |
| NG_012624.1:g.7991G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1575G>A MANE Select | ENSP00000309595.2:p.Glu525= | |
| ENST00000370228.2:c.1575G>A | ENSP00000359248.1:p.Glu525= | |
| ENST00000643860.1:c.1575G>A | ENSP00000494389.1:p.Glu525= | |
| ENST00000646226.1:n.390G>A | ||
| ENST00000647109.1:c.234G>A | ||
| ENST00000650396.1:c.536G>A | ||
| ENST00000311916.6:c.1575G>A | ENSP00000309595.2:p.Glu525= | |
| ENST00000370228.1:c.1575G>A | ENSP00000359248.1:p.Glu525= | |
| ENST00000473656.5:n.396G>A | ||
| ENST00000476766.5:n.461G>A | ||
| NM_001163812.1:c.1575G>A | NP_001157284.1:p.Glu525= | |
| NM_001163813.1:c.213G>A | NP_001157285.1:p.Glu71= | |
| NM_001163814.1:c.213G>A | NP_001157286.1:p.Glu71= | |
| NM_021830.4:c.1575G>A | NP_068602.2:p.Glu525= | |
| XM_011539974.1:c.213G>A | XP_011538276.1:p.Glu71= | |
| XM_011539975.1:c.213G>A | XP_011538277.1:p.Glu71= | |
| XR_945788.1:n.2346G>A | ||
| XM_011539975.2:c.213G>A | XP_011538277.1:p.Glu71= | |
| XM_017016437.1:c.213G>A | XP_016871926.1:p.Glu71= | |
| XR_001747142.1:n.1749G>A | ||
| XR_001747144.1:n.1687G>A | ||
| XR_002956991.1:n.1687G>A | ||
| XR_945788.2:n.1687G>A | ||
| NM_021830.5:c.1575G>A MANE Select | NP_068602.2:p.Glu525= | |
| NM_001163812.2:c.1575G>A | NP_001157284.1:p.Glu525= | |
| NM_001163813.2:c.213G>A | NP_001157285.1:p.Glu71= | |
| NM_001163814.2:c.213G>A | NP_001157286.1:p.Glu71= | |
| NM_001368275.1:c.213G>A | NP_001355204.1:p.Glu71= | |
| NR_160738.1:n.2243G>A | ||
| NR_160739.1:n.403G>A | ||
| NR_160740.1:n.2181G>A | ||
| NR_160741.1:n.2181G>A | ||
| NR_160742.1:n.2181G>A |