Linked Data
dbSNP Id:
rs1568582695
gnomAD v4:
17-82265756-A-T
MyVariant Identifiers:
chr17:g.80223632A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265756A>T , CM000679.2:g.82265756A>T | GRCh38 |
| NC_000017.10:g.80223632A>T , CM000679.1:g.80223632A>T | GRCh37 |
| NC_000017.9:g.77816921A>T | NCBI36 |
| NG_012828.1:g.12942T>A | |
| NG_012828.2:g.12987T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392334.7:c.117T>A | ENSP00000376146.2:p.Leu39= | |
| ENST00000314028.11:c.117T>A MANE Select | ENSP00000324464.6:p.Leu39= | |
| ENST00000314028.10:c.117T>A | ENSP00000324464.6:p.Leu39= | |
| ENST00000392334.6:c.117T>A | ENSP00000376146.2:p.Leu39= | |
| ENST00000398519.9:c.117T>A | ENSP00000381531.5:p.Leu39= | |
| ENST00000403276.7:c.117T>A | ENSP00000385769.3:p.Leu39= | |
| ENST00000578194.5:n.323T>A | ||
| ENST00000579308.1:n.142T>A | ||
| ENST00000579316.5:n.174T>A | ||
| ENST00000580061.5:n.117T>A | ||
| ENST00000580446.1:c.76+7550T>A | ENSP00000463757.1:n.76+7550T>A | |
| ENST00000581241.5:n.105T>A | ||
| ENST00000581660.5:c.*155T>A | ENSP00000464551.1:n.*155T>A | |
| ENST00000582844.5:n.75T>A | ||
| ENST00000584472.5:n.202T>A | ||
| ENST00000585026.1:c.*163T>A | ENSP00000462144.1:n.*163T>A | |
| NM_001893.4:c.117T>A | NP_001884.2:p.Leu39= | |
| NM_139062.2:c.117T>A | NP_620693.1:p.Leu39= | |
| NR_110578.1:n.478T>A | ||
| XM_005256336.2:c.117T>A | XP_005256393.1:p.Leu39= | |
| XM_005256337.3:c.117T>A | XP_005256394.1:p.Leu39= | |
| XR_243518.2:n.437T>A | ||
| XR_430028.2:n.437T>A | ||
| XR_933922.1:n.437T>A | ||
| XR_933923.1:n.437T>A | ||
| NM_001363749.1:c.117T>A | NP_001350678.1:p.Leu39= | |
| NM_001893.5:c.117T>A | NP_001884.2:p.Leu39= | |
| NM_139062.3:c.117T>A | NP_620693.1:p.Leu39= | |
| NR_110578.2:n.486T>A | ||
| XM_005256336.4:c.117T>A | XP_005256393.1:p.Leu39= | |
| XR_002957961.1:n.436T>A | ||
| XR_243518.4:n.436T>A | ||
| XR_430028.4:n.436T>A | ||
| XR_933922.3:n.436T>A | ||
| XR_933923.3:n.436T>A | ||
| NM_001363749.2:c.117T>A | NP_001350678.1:p.Leu39= | |
| NM_001893.6:c.117T>A MANE Select | NP_001884.2:p.Leu39= | |
| NM_139062.4:c.117T>A | NP_620693.1:p.Leu39= |