Linked Data
ClinVar Variation Id:
45357
dbSNP Id:
rs202043599
ExAC:
2:39224178 C / T
gnomAD v2:
2-39224178-C-T
gnomAD v3:
2-38997037-C-T
gnomAD v4:
2-38997037-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38997037C>T , CM000664.2:g.38997037C>T | GRCh38 |
| NC_000002.11:g.39224178C>T , CM000664.1:g.39224178C>T | GRCh37 |
| NC_000002.10:g.39077682C>T | NCBI36 |
| NG_007530.1:g.128427G>A , LRG_754:g.128427G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.1733G>A | ENSP00000509424.1:p.Arg578Lys | |
| ENST00000689668.1:n.2973G>A | ||
| ENST00000690876.1:c.*272G>A | ENSP00000508955.1:n.*272G>A | |
| ENST00000691229.1:c.2735G>A | ENSP00000510437.1:p.Arg912Lys | |
| ENST00000692089.1:c.2855G>A | ENSP00000508626.1:p.Arg952Lys | |
| ENST00000692227.1:c.662G>A | ENSP00000509138.1:p.Arg221Lys | |
| ENST00000692620.1:c.*553G>A | ENSP00000509311.1:n.*553G>A | |
| ENST00000402219.8:c.2966G>A MANE Select | ENSP00000384675.2:p.Arg989Lys | |
| ENST00000395038.6:c.2966G>A | ENSP00000378479.2:p.Arg989Lys | |
| ENST00000402219.6:c.2966G>A | ENSP00000384675.2:p.Arg989Lys | |
| ENST00000426016.5:c.2966G>A | ENSP00000387784.1:p.Arg989Lys | |
| NM_005633.3:c.2966G>A , LRG_754t1:c.2966G>A | NP_005624.2:p.Arg989Lys | |
| XM_005264515.3:c.2966G>A | XP_005264572.1:p.Arg989Lys | |
| XM_011533060.1:c.3059G>A | XP_011531362.1:p.Arg1020Lys | |
| XM_011533061.1:c.3059G>A | XP_011531363.1:p.Arg1020Lys | |
| XM_011533062.1:c.2945G>A | XP_011531364.1:p.Arg982Lys | |
| XM_011533063.1:c.2942G>A | XP_011531365.1:p.Arg981Lys | |
| XM_011533064.1:c.2795G>A | XP_011531366.1:p.Arg932Lys | |
| XM_011533065.1:c.3059G>A | XP_011531367.1:p.Arg1020Lys | |
| XM_011533066.1:c.1901G>A | XP_011531368.1:p.Arg634Lys | |
| XM_005264515.4:c.2966G>A | XP_005264572.1:p.Arg989Lys | |
| XM_011533062.2:c.2945G>A | XP_011531364.1:p.Arg982Lys | |
| XM_011533064.2:c.2795G>A | XP_011531366.1:p.Arg932Lys | |
| NM_001382394.1:c.2945G>A | NP_001369323.1:p.Arg982Lys | |
| NM_001382395.1:c.2966G>A | NP_001369324.1:p.Arg989Lys | |
| NM_005633.4:c.2966G>A MANE Select | NP_005624.2:p.Arg989Lys |