Linked Data
ClinVar Variation Id:
41860
dbSNP Id:
rs116643153
ExAC:
17:17124835 A / T
gnomAD v2:
17-17124835-A-T
gnomAD v3:
17-17221521-A-T
gnomAD v4:
17-17221521-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17221521A>T , CM000679.2:g.17221521A>T | GRCh38 |
| NC_000017.10:g.17124835A>T , CM000679.1:g.17124835A>T | GRCh37 |
| NC_000017.9:g.17065560A>T | NCBI36 |
| NG_008001.2:g.20668T>A , LRG_325:g.20668T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285071.9:c.871+16T>A MANE Select | ENSP00000285071.4:n.871+16T>A | |
| ENST00000285071.8:c.871+16T>A | ENSP00000285071.4:n.871+16T>A | |
| ENST00000389169.9:c.887T>A | ENSP00000373821.5:p.Leu296Gln | |
| ENST00000427497.3:c.149-2467T>A | ENSP00000394249.3:n.149-2467T>A | |
| ENST00000466317.1:n.730T>A | ||
| NM_144606.5:c.887T>A | NP_653207.1:p.Leu296Gln | |
| NM_144997.5:c.871+16T>A , LRG_325t1:c.871+16T>A | NP_659434.2:n.871+16T>A | |
| XM_011523714.1:c.925+16T>A | XP_011522016.1:n.925+16T>A | |
| XM_011523715.1:c.925+16T>A | XP_011522017.1:n.925+16T>A | |
| XM_011523716.1:c.925+16T>A | XP_011522018.1:n.925+16T>A | |
| XM_011523717.1:c.925+16T>A | XP_011522019.1:n.925+16T>A | |
| XM_011523718.1:c.925+16T>A | XP_011522020.1:n.925+16T>A | |
| XM_011523719.1:c.925+16T>A | XP_011522021.1:n.925+16T>A | |
| XM_011523720.1:c.649+16T>A | XP_011522022.1:n.649+16T>A | |
| XM_011523721.1:c.925+16T>A | XP_011522023.1:n.925+16T>A | |
| XR_934007.1:n.2265+16T>A | ||
| NM_001353229.1:c.925+16T>A | NP_001340158.1:n.925+16T>A | |
| NM_001353230.1:c.871+16T>A | NP_001340159.1:n.871+16T>A | |
| NM_001353231.1:c.871+16T>A | NP_001340160.1:n.871+16T>A | |
| NM_144606.6:c.887T>A | NP_653207.1:p.Leu296Gln | |
| NM_144997.6:c.871+16T>A | NP_659434.2:n.871+16T>A | |
| XM_011523714.3:c.925+16T>A | XP_011522016.1:n.925+16T>A | |
| XM_011523718.3:c.925+16T>A | XP_011522020.1:n.925+16T>A | |
| XM_011523719.3:c.925+16T>A | XP_011522021.1:n.925+16T>A | |
| XM_011523721.3:c.925+16T>A | XP_011522023.1:n.925+16T>A | |
| XM_017024305.2:c.925+16T>A | XP_016879794.1:n.925+16T>A | |
| XM_017024308.1:c.871+16T>A | XP_016879797.1:n.871+16T>A | |
| XM_017024309.2:c.649+16T>A | XP_016879798.1:n.649+16T>A | |
| XM_024450635.1:c.925+16T>A | XP_024306403.1:n.925+16T>A | |
| XR_001752445.2:n.1429+16T>A | ||
| NM_144997.7:c.871+16T>A MANE Select | NP_659434.2:n.871+16T>A | |
| NM_001353229.2:c.925+16T>A | NP_001340158.1:n.925+16T>A | |
| NM_001353230.2:c.871+16T>A | NP_001340159.1:n.871+16T>A | |
| NM_001353231.2:c.871+16T>A | NP_001340160.1:n.871+16T>A | |
| NM_144606.7:c.887T>A | NP_653207.1:p.Leu296Gln |