Linked Data
ClinVar Variation Id:
141353
dbSNP Id:
rs587781680
ExAC:
17:56774212 A / T
gnomAD v2:
17-56774212-A-T
gnomAD v3:
17-58696851-A-T
gnomAD v4:
17-58696851-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58696851A>T , CM000679.2:g.58696851A>T | GRCh38 |
| NC_000017.10:g.56774212A>T , CM000679.1:g.56774212A>T | GRCh37 |
| NC_000017.9:g.54129211A>T | NCBI36 |
| NG_023199.1:g.9250A>T , LRG_314:g.9250A>T | |
| NG_047169.1:g.229T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.212A>T | ENSP00000464056.2:p.Lys71Met | |
| ENST00000697675.1:n.3160A>T | ||
| ENST00000697676.1:n.623A>T | ||
| ENST00000697677.1:n.1644A>T | ||
| ENST00000697678.1:n.465A>T | ||
| ENST00000697679.1:n.1637A>T | ||
| ENST00000697680.1:c.*1427A>T | ENSP00000513392.1:n.*1427A>T | |
| ENST00000697681.1:c.*1454A>T | ENSP00000513393.1:n.*1454A>T | |
| ENST00000697683.1:c.*1427A>T | ENSP00000513395.1:n.*1427A>T | |
| ENST00000697684.1:n.623A>T | ||
| ENST00000697685.1:c.*1268+1662A>T | ENSP00000513396.1:n.*1268+1662A>T | |
| ENST00000697686.1:c.212A>T | ENSP00000513397.1:p.Lys71Met | |
| ENST00000697687.1:n.450+1662A>T | ||
| ENST00000697688.1:n.609A>T | ||
| ENST00000697689.1:c.*1107+1662A>T | ENSP00000513398.1:n.*1107+1662A>T | |
| ENST00000697690.1:c.563A>T | ENSP00000513399.1:p.Lys188Met | |
| ENST00000697691.1:c.*535A>T | ENSP00000513400.1:n.*535A>T | |
| ENST00000697692.1:c.*575A>T | ENSP00000513401.1:n.*575A>T | |
| ENST00000697694.1:c.212A>T | ENSP00000513402.1:p.Lys71Met | |
| ENST00000697695.1:n.1170A>T | ||
| ENST00000337432.9:c.563A>T MANE Select | ENSP00000336701.4:p.Lys188Met | |
| ENST00000337432.8:c.563A>T | ENSP00000336701.4:p.Lys188Met | |
| ENST00000413590.5:c.201A>T | ||
| ENST00000425173.5:c.359A>T | ENSP00000407282.1:p.Lys120Met | |
| ENST00000461271.5:c.212A>T | ENSP00000464056.1:p.Lys71Met | |
| ENST00000475762.5:c.*1266A>T | ENSP00000432421.1:n.*1266A>T | |
| ENST00000482007.5:c.404+1662A>T | ENSP00000433332.1:n.404+1662A>T | |
| ENST00000487525.5:c.404+1662A>T | ENSP00000431637.1:n.404+1662A>T | |
| ENST00000487921.5:n.475A>T | ||
| ENST00000583539.5:c.563A>T | ENSP00000463121.1:p.Lys188Met | |
| ENST00000584617.5:c.285A>T | ||
| ENST00000622327.4:c.299A>T | ENSP00000482326.1:p.Lys100Met | |
| NM_058216.2:c.563A>T | NP_478123.1:p.Lys188Met | |
| NR_103872.1:n.475+1662A>T | ||
| XM_006722001.2:c.563A>T | XP_006722064.1:p.Lys188Met | |
| XM_006722002.2:c.563A>T | XP_006722065.1:p.Lys188Met | |
| XM_006722004.2:c.212A>T | XP_006722067.1:p.Lys71Met | |
| XM_006722005.2:c.212A>T | XP_006722068.1:p.Lys71Met | |
| XM_011525092.1:c.212A>T | XP_011523394.1:p.Lys71Met | |
| XM_011525093.1:c.212A>T | XP_011523395.1:p.Lys71Met | |
| XM_011525094.1:c.212A>T | XP_011523396.1:p.Lys71Met | |
| XR_934513.1:n.636A>T | ||
| XR_934514.1:n.636A>T | ||
| XM_006722001.4:c.563A>T | XP_006722064.1:p.Lys188Met | |
| XM_006722002.4:c.563A>T | XP_006722065.1:p.Lys188Met | |
| XM_006722004.3:c.212A>T | XP_006722067.1:p.Lys71Met | |
| XM_006722005.3:c.212A>T | XP_006722068.1:p.Lys71Met | |
| XM_011525092.2:c.212A>T | XP_011523394.1:p.Lys71Met | |
| XM_011525093.2:c.212A>T | XP_011523395.1:p.Lys71Met | |
| XM_011525094.2:c.212A>T | XP_011523396.1:p.Lys71Met | |
| XM_017024914.1:c.212A>T | XP_016880403.1:p.Lys71Met | |
| XM_017024915.1:c.212A>T | XP_016880404.1:p.Lys71Met | |
| XM_017024916.1:c.212A>T | XP_016880405.1:p.Lys71Met | |
| XM_017024917.1:c.212A>T | XP_016880406.1:p.Lys71Met | |
| XM_017024918.2:c.212A>T | XP_016880407.1:p.Lys71Met | |
| XM_017024919.1:c.212A>T | XP_016880408.1:p.Lys71Met | |
| XR_934513.3:n.1067A>T | ||
| XR_934514.3:n.1067A>T | ||
| NM_058216.3:c.563A>T MANE Select | NP_478123.1:p.Lys188Met | |
| NR_103872.2:n.446+1662A>T |