Linked Data
ClinVar Variation Id:
3231675
ClinVar RCV Id:
RCV004518391
dbSNP Id:
rs1203133823
gnomAD v2:
19-45855525-T-A
gnomAD v4:
19-45352267-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352267T>A , CM000681.2:g.45352267T>A | GRCh38 |
| NC_000019.9:g.45855525T>A , CM000681.1:g.45855525T>A | GRCh37 |
| NC_000019.8:g.50547365T>A | NCBI36 |
| NG_007067.2:g.23321A>T , LRG_461:g.23321A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2132A>T | ENSP00000375808.4:p.Asp711Val | |
| ENST00000682414.1:c.2132A>T | ENSP00000507019.1:p.Asp711Val | |
| ENST00000682508.1:n.2161A>T | ||
| ENST00000684218.1:c.*1390A>T | ENSP00000507804.1:n.*1390A>T | |
| ENST00000684264.1:n.1688A>T | ||
| ENST00000684407.1:c.2009A>T | ENSP00000507775.1:p.Asp670Val | |
| ENST00000684458.1:c.*618A>T | ENSP00000508260.1:n.*618A>T | |
| ENST00000684468.1:n.1844A>T | ||
| ENST00000391945.10:c.2132A>T MANE Select | ENSP00000375809.4:p.Asp711Val | |
| ENST00000646507.1:n.2229A>T | ||
| ENST00000391941.6:c.2060A>T | ENSP00000375805.2:p.Asp687Val | |
| ENST00000391942.6:n.1303A>T | ||
| ENST00000391944.7:c.1898A>T | ENSP00000375808.3:p.Asp633Val | |
| ENST00000391945.8:c.2132A>T | ENSP00000375809.3:p.Asp711Val | |
| ENST00000588652.5:n.2220A>T | ||
| NM_000400.3:c.2132A>T , LRG_461t1:c.2132A>T | NP_000391.1:p.Asp711Val | |
| XM_011526611.1:c.2054A>T | XP_011524913.1:p.Asp685Val | |
| XM_011526611.2:c.2054A>T | XP_011524913.1:p.Asp685Val | |
| XM_017026467.1:c.2009A>T | XP_016881956.1:p.Asp670Val | |
| XR_001753633.2:n.2179A>T | ||
| XR_001753634.2:n.2115A>T | ||
| NM_000400.4:c.2132A>T MANE Select | NP_000391.1:p.Asp711Val |