Linked Data
ClinVar Variation Id:
167370
dbSNP Id:
rs9662691
ExAC:
1:5924551 C / A
gnomAD v2:
1-5924551-C-A
gnomAD v3:
1-5864491-C-A
gnomAD v4:
1-5864491-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5864491C>A , CM000663.2:g.5864491C>A | GRCh38 |
| NC_000001.10:g.5924551C>A , CM000663.1:g.5924551C>A | GRCh37 |
| NC_000001.9:g.5847138C>A | NCBI36 |
| NG_011724.2:g.132981G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3843G>T MANE Select | ENSP00000367398.4:p.Leu1281= | |
| ENST00000378156.8:c.3843G>T | ENSP00000367398.4:p.Leu1281= | |
| ENST00000378161.5:n.2690G>T | ||
| ENST00000378169.7:c.*2744G>T | ENSP00000367411.3:n.*2744G>T | |
| ENST00000460696.1:n.2591G>T | ||
| ENST00000478423.6:n.3575G>T | ||
| ENST00000489180.6:c.*1654G>T | ENSP00000423747.1:n.*1654G>T | |
| NM_001291593.1:c.2304G>T | NP_001278522.1:p.Leu768= | |
| NM_001291594.1:c.2307G>T | NP_001278523.1:p.Leu769= | |
| NM_015102.4:c.3843G>T | NP_055917.1:p.Leu1281= | |
| NR_111987.1:n.4658G>T | ||
| XM_006710563.2:c.3843G>T | XP_006710626.1:p.Leu1281= | |
| XM_006710565.2:c.3843G>T | XP_006710628.1:p.Leu1281= | |
| XM_011541213.1:c.3840G>T | XP_011539515.1:p.Leu1280= | |
| XM_011541214.1:c.3801G>T | XP_011539516.1:p.Leu1267= | |
| XM_011541215.1:c.3732G>T | XP_011539517.1:p.Leu1244= | |
| XM_011541216.1:c.3843G>T | XP_011539518.1:p.Leu1281= | |
| XM_011541217.1:c.3843G>T | XP_011539519.1:p.Leu1281= | |
| XM_011541218.1:c.3843G>T | XP_011539520.1:p.Leu1281= | |
| XM_011541219.1:c.3789G>T | XP_011539521.1:p.Leu1263= | |
| XM_011541220.1:c.3671G>T | XP_011539522.1:p.Cys1224Phe | |
| XM_006710563.3:c.3843G>T | XP_006710626.1:p.Leu1281= | |
| XM_011541216.2:c.3843G>T | XP_011539518.1:p.Leu1281= | |
| XM_011541217.2:c.3843G>T | XP_011539519.1:p.Leu1281= | |
| XM_011541218.2:c.3843G>T | XP_011539520.1:p.Leu1281= | |
| XM_017000996.1:c.3798G>T | XP_016856485.1:p.Leu1266= | |
| XM_017000997.1:c.3843G>T | XP_016856486.1:p.Leu1281= | |
| XM_017000999.1:c.3315G>T | XP_016856488.1:p.Leu1105= | |
| XM_017001000.2:c.3315G>T | XP_016856489.1:p.Leu1105= | |
| XM_017001001.1:c.3045G>T | XP_016856490.1:p.Leu1015= | |
| XM_017001003.1:c.2304G>T | XP_016856492.1:p.Leu768= | |
| XR_001737114.1:n.3709G>T | ||
| XR_001737115.1:n.3694G>T | ||
| NM_015102.5:c.3843G>T MANE Select | NP_055917.1:p.Leu1281= | |
| NM_001291593.2:c.2304G>T | NP_001278522.1:p.Leu768= | |
| NM_001291594.2:c.2307G>T | NP_001278523.1:p.Leu769= | |
| NR_111987.2:n.4610G>T |