Linked Data
ClinVar Variation Id:
2048305
dbSNP Id:
rs564721149
ExAC:
20:31024192 T / A
gnomAD v2:
20-31024192-T-A
gnomAD v3:
20-32436389-T-A
gnomAD v4:
20-32436389-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436389T>A , CM000682.2:g.32436389T>A | GRCh38 |
| NC_000020.10:g.31024192T>A , CM000682.1:g.31024192T>A | GRCh37 |
| NC_000020.9:g.30487853T>A | NCBI36 |
| NG_027868.1:g.83046T>A , LRG_630:g.83046T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3677T>A MANE Select | ENSP00000364839.4:p.Leu1226Gln | |
| ENST00000646985.1:c.3494T>A | ENSP00000495053.1:p.Leu1165Gln | |
| ENST00000647223.1:n.6030T>A | ||
| ENST00000651418.1:c.1869+1808T>A | ENSP00000499150.1:n.1869+1808T>A | |
| ENST00000306058.9:c.3662T>A | ENSP00000305119.5:p.Leu1221Gln | |
| ENST00000375687.8:c.3677T>A | ENSP00000364839.4:p.Leu1226Gln | |
| ENST00000613218.4:c.3677T>A | ENSP00000480487.1:p.Leu1226Gln | |
| ENST00000620121.4:c.3677T>A | ENSP00000481978.1:p.Leu1226Gln | |
| NM_015338.5:c.3677T>A , LRG_630t1:c.3677T>A | NP_056153.2:p.Leu1226Gln | |
| XM_006723727.2:c.3674T>A | XP_006723790.1:p.Leu1225Gln | |
| XM_006723728.2:c.3647T>A | XP_006723791.1:p.Leu1216Gln | |
| XM_006723730.2:c.3593T>A | XP_006723793.1:p.Leu1198Gln | |
| XM_006723732.2:c.3494T>A | XP_006723795.1:p.Leu1165Gln | |
| XM_006723733.1:c.2993T>A | XP_006723796.1:p.Leu998Gln | |
| XM_011528647.1:c.3941T>A | XP_011526949.1:p.Leu1314Gln | |
| XM_011528648.1:c.3938T>A | XP_011526950.1:p.Leu1313Gln | |
| XM_011528649.1:c.3857T>A | XP_011526951.1:p.Leu1286Gln | |
| XM_011528650.1:c.3788T>A | XP_011526952.1:p.Leu1263Gln | |
| XM_011528651.1:c.3656T>A | XP_011526953.1:p.Leu1219Gln | |
| XM_011528652.1:c.3593T>A | XP_011526954.1:p.Leu1198Gln | |
| NM_001363734.1:c.3494T>A | NP_001350663.1:p.Leu1165Gln | |
| XM_006723727.3:c.3674T>A | XP_006723790.1:p.Leu1225Gln | |
| XM_006723728.3:c.3647T>A | XP_006723791.1:p.Leu1216Gln | |
| XM_006723730.4:c.3593T>A | XP_006723793.1:p.Leu1198Gln | |
| XM_011528648.3:c.3938T>A | XP_011526950.1:p.Leu1313Gln | |
| XM_011528652.2:c.3593T>A | XP_011526954.1:p.Leu1198Gln | |
| XM_017027704.1:c.3593T>A | XP_016883193.1:p.Leu1198Gln | |
| XM_017027705.1:c.3593T>A | XP_016883194.1:p.Leu1198Gln | |
| XM_017027706.1:c.3524T>A | XP_016883195.1:p.Leu1175Gln | |
| NM_015338.6:c.3677T>A MANE Select | NP_056153.2:p.Leu1226Gln |