Linked Data
ClinVar Variation Id:
128829
dbSNP Id:
rs6535454
ExAC:
4:84191031 A / G
gnomAD v2:
4-84191031-A-G
gnomAD v3:
4-83269878-A-G
gnomAD v4:
4-83269878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83269878A>G , CM000666.2:g.83269878A>G | GRCh38 |
| NC_000004.11:g.84191031A>G , CM000666.1:g.84191031A>G | GRCh37 |
| NC_000004.10:g.84410055A>G | NCBI36 |
| NG_015825.1:g.20037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311469.9:c.894T>C | ENSP00000310873.4:p.Asp298= | |
| ENST00000647002.2:c.744T>C MANE Select | ENSP00000495761.2:p.Asp248= | |
| ENST00000311461.7:c.744T>C | ENSP00000311835.7:p.Asp248= | |
| ENST00000311469.8:c.894T>C | ENSP00000310873.4:p.Asp298= | |
| ENST00000503391.5:c.629-2104T>C | ENSP00000426242.1:n.629-2104T>C | |
| ENST00000503915.5:c.435T>C | ENSP00000427146.1:p.Asp145= | |
| NM_015697.7:c.894T>C | NP_056512.5:p.Asp298= | |
| XM_011531855.1:c.894T>C | XP_011530157.1:p.Asp298= | |
| XM_011531856.1:c.894T>C | XP_011530158.1:p.Asp298= | |
| XM_011531857.1:c.894T>C | XP_011530159.1:p.Asp298= | |
| XM_011531858.1:c.894T>C | XP_011530160.1:p.Asp298= | |
| XM_011531859.1:c.894T>C | XP_011530161.1:p.Asp298= | |
| XM_011531860.1:c.894T>C | XP_011530162.1:p.Asp298= | |
| XM_011531861.1:c.894T>C | XP_011530163.1:p.Asp298= | |
| XM_011531862.1:c.894T>C | XP_011530164.1:p.Asp298= | |
| XM_011531863.1:c.894T>C | XP_011530165.1:p.Asp298= | |
| XM_011531864.1:c.894T>C | XP_011530166.1:p.Asp298= | |
| XM_011531865.1:c.894T>C | XP_011530167.1:p.Asp298= | |
| XM_011531866.1:c.894T>C | XP_011530168.1:p.Asp298= | |
| XM_011531867.1:c.540T>C | XP_011530169.1:p.Asp180= | |
| XR_427543.2:n.1053T>C | ||
| XR_938721.1:n.1064T>C | ||
| NM_001358921.1:c.744T>C | NP_001345850.1:p.Asp248= | |
| NM_015697.8:c.894T>C | NP_056512.5:p.Asp298= | |
| XM_011531855.3:c.744T>C | XP_011530157.2:p.Asp248= | |
| XM_011531857.3:c.744T>C | XP_011530159.2:p.Asp248= | |
| XM_011531859.3:c.744T>C | XP_011530161.2:p.Asp248= | |
| XM_011531860.3:c.744T>C | XP_011530162.2:p.Asp248= | |
| XM_011531862.3:c.744T>C | XP_011530164.2:p.Asp248= | |
| XM_011531863.3:c.744T>C | XP_011530165.2:p.Asp248= | |
| XM_011531866.3:c.744T>C | XP_011530168.2:p.Asp248= | |
| XM_011531867.3:c.540T>C | XP_011530169.1:p.Asp180= | |
| XM_017008031.2:c.540T>C | XP_016863520.1:p.Asp180= | |
| XM_017008032.2:c.153T>C | XP_016863521.1:p.Asp51= | |
| XR_001741203.2:n.775T>C | ||
| XR_001741204.2:n.770T>C | ||
| XR_427543.4:n.775T>C | ||
| XR_938721.3:n.770T>C | ||
| NM_001358921.2:c.744T>C MANE Select | NP_001345850.1:p.Asp248= | |
| NM_015697.9:c.894T>C | NP_056512.5:p.Asp298= |