Linked Data
ClinVar Variation Id:
2447838
ClinVar RCV Id:
RCV004247452
dbSNP Id:
rs1652220563
gnomAD v3:
1-10337417-G-A
gnomAD v4:
1-10337417-G-A
MyVariant Identifiers:
chr1:g.10397475G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10337417G>A , CM000663.2:g.10337417G>A | GRCh38 |
| NC_000001.10:g.10397475G>A , CM000663.1:g.10397475G>A | GRCh37 |
| NC_000001.9:g.10320062G>A | NCBI36 |
| NG_008069.1:g.131712G>A , LRG_252:g.131712G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.3168G>A | ENSP00000512668.1:p.Gly1056= | |
| ENST00000696503.1:c.3231G>A | ENSP00000512669.1:p.Gly1077= | |
| ENST00000696504.1:c.3231G>A | ENSP00000512670.1:p.Gly1077= | |
| ENST00000676179.1:c.3306G>A MANE Select | ENSP00000502065.1:p.Gly1102= | |
| ENST00000263934.10:c.3168G>A | ENSP00000263934.6:p.Gly1056= | |
| ENST00000377081.5:c.3306G>A | ENSP00000366284.1:p.Gly1102= | |
| ENST00000377086.5:c.3306G>A | ENSP00000366290.1:p.Gly1102= | |
| ENST00000620295.2:c.3264G>A | ENSP00000478500.1:p.Gly1088= | |
| ENST00000622724.3:c.3228G>A | ENSP00000480063.1:p.Gly1076= | |
| NM_015074.3:c.3168G>A , LRG_252t1:c.3168G>A | NP_055889.2:p.Gly1056= | |
| NM_001365951.1:c.3306G>A | NP_001352880.1:p.Gly1102= | |
| NM_001365952.1:c.3306G>A | NP_001352881.1:p.Gly1102= | |
| NM_001365951.3:c.3306G>A MANE Select | NP_001352880.1:p.Gly1102= |