Linked Data
ClinVar Variation Id:
2566697
ClinVar RCV Id:
RCV003306688
dbSNP Id:
rs1599723999
gnomAD v4:
19-45352328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352328C>T , CM000681.2:g.45352328C>T | GRCh38 |
| NC_000019.9:g.45855586C>T , CM000681.1:g.45855586C>T | GRCh37 |
| NC_000019.8:g.50547426C>T | NCBI36 |
| NG_007067.2:g.23260G>A , LRG_461:g.23260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2071G>A | ENSP00000375808.4:p.Gly691Arg | |
| ENST00000682414.1:c.2071G>A | ENSP00000507019.1:p.Gly691Arg | |
| ENST00000682508.1:n.2100G>A | ||
| ENST00000684218.1:c.*1329G>A | ENSP00000507804.1:n.*1329G>A | |
| ENST00000684264.1:n.1627G>A | ||
| ENST00000684407.1:c.1948G>A | ENSP00000507775.1:p.Gly650Arg | |
| ENST00000684458.1:c.*557G>A | ENSP00000508260.1:n.*557G>A | |
| ENST00000684468.1:n.1783G>A | ||
| ENST00000391945.10:c.2071G>A MANE Select | ENSP00000375809.4:p.Gly691Arg | |
| ENST00000646507.1:n.2168G>A | ||
| ENST00000391941.6:c.1999G>A | ENSP00000375805.2:p.Gly667Arg | |
| ENST00000391942.6:n.1242G>A | ||
| ENST00000391944.7:c.1837G>A | ENSP00000375808.3:p.Gly613Arg | |
| ENST00000391945.8:c.2071G>A | ENSP00000375809.3:p.Gly691Arg | |
| ENST00000588652.5:n.2159G>A | ||
| NM_000400.3:c.2071G>A , LRG_461t1:c.2071G>A | NP_000391.1:p.Gly691Arg | |
| XM_011526611.1:c.1993G>A | XP_011524913.1:p.Gly665Arg | |
| XM_011526611.2:c.1993G>A | XP_011524913.1:p.Gly665Arg | |
| XM_017026467.1:c.1948G>A | XP_016881956.1:p.Gly650Arg | |
| XR_001753633.2:n.2118G>A | ||
| XR_001753634.2:n.2054G>A | ||
| NM_000400.4:c.2071G>A MANE Select | NP_000391.1:p.Gly691Arg |