Linked Data
ClinVar Variation Id:
186648
dbSNP Id:
rs751513488
ExAC:
17:17122336 C / T
gnomAD v2:
17-17122336-C-T
gnomAD v3:
17-17219022-C-T
gnomAD v4:
17-17219022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17219022C>T , CM000679.2:g.17219022C>T | GRCh38 |
| NC_000017.10:g.17122336C>T , CM000679.1:g.17122336C>T | GRCh37 |
| NC_000017.9:g.17063061C>T | NCBI36 |
| NG_008001.2:g.23167G>A , LRG_325:g.23167G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285071.9:c.1059G>A MANE Select | ENSP00000285071.4:p.Arg353= | |
| ENST00000285071.8:c.1059G>A | ENSP00000285071.4:p.Arg353= | |
| ENST00000427497.3:c.181G>A | ENSP00000394249.3:p.Ala61Thr | |
| ENST00000577591.1:n.82G>A | ||
| NM_144997.5:c.1059G>A , LRG_325t1:c.1059G>A | NP_659434.2:p.Arg353= | |
| XM_011523714.1:c.1113G>A | XP_011522016.1:p.Arg371= | |
| XM_011523715.1:c.1113G>A | XP_011522017.1:p.Arg371= | |
| XM_011523716.1:c.1113G>A | XP_011522018.1:p.Arg371= | |
| XM_011523717.1:c.1113G>A | XP_011522019.1:p.Arg371= | |
| XM_011523718.1:c.1113G>A | XP_011522020.1:p.Arg371= | |
| XM_011523719.1:c.1113G>A | XP_011522021.1:p.Arg371= | |
| XM_011523720.1:c.837G>A | XP_011522022.1:p.Arg279= | |
| XM_011523721.1:c.1113G>A | XP_011522023.1:p.Arg371= | |
| XR_934007.1:n.2453G>A | ||
| NM_001353229.1:c.1113G>A | NP_001340158.1:p.Arg371= | |
| NM_001353230.1:c.1059G>A | NP_001340159.1:p.Arg353= | |
| NM_001353231.1:c.1059G>A | NP_001340160.1:p.Arg353= | |
| NM_144997.6:c.1059G>A | NP_659434.2:p.Arg353= | |
| XM_011523714.3:c.1113G>A | XP_011522016.1:p.Arg371= | |
| XM_011523718.3:c.1113G>A | XP_011522020.1:p.Arg371= | |
| XM_011523719.3:c.1113G>A | XP_011522021.1:p.Arg371= | |
| XM_011523721.3:c.1113G>A | XP_011522023.1:p.Arg371= | |
| XM_017024305.2:c.1113G>A | XP_016879794.1:p.Arg371= | |
| XM_017024308.1:c.1059G>A | XP_016879797.1:p.Arg353= | |
| XM_017024309.2:c.837G>A | XP_016879798.1:p.Arg279= | |
| XM_024450635.1:c.1113G>A | XP_024306403.1:p.Arg371= | |
| XR_001752445.2:n.1617G>A | ||
| NM_144997.7:c.1059G>A MANE Select | NP_659434.2:p.Arg353= | |
| NM_001353229.2:c.1113G>A | NP_001340158.1:p.Arg371= | |
| NM_001353230.2:c.1059G>A | NP_001340159.1:p.Arg353= | |
| NM_001353231.2:c.1059G>A | NP_001340160.1:p.Arg353= |