Linked Data
ClinVar Variation Id:
477718
dbSNP Id:
rs142666652
ExAC:
2:39240603 C / T
gnomAD v2:
2-39240603-C-T
gnomAD v3:
2-39013462-C-T
gnomAD v4:
2-39013462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013462C>T , CM000664.2:g.39013462C>T | GRCh38 |
| NC_000002.11:g.39240603C>T , CM000664.1:g.39240603C>T | GRCh37 |
| NC_000002.10:g.39094107C>T | NCBI36 |
| NG_007530.1:g.112002G>A , LRG_754:g.112002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.932G>A | ENSP00000509424.1:p.Arg311Lys | |
| ENST00000688043.1:n.2386G>A | ||
| ENST00000689668.1:n.2172G>A | ||
| ENST00000690514.1:n.254G>A | ||
| ENST00000690876.1:c.2054G>A | ENSP00000508955.1:p.Arg685Lys | |
| ENST00000691229.1:c.2054G>A | ENSP00000510437.1:p.Arg685Lys | |
| ENST00000692089.1:c.2054G>A | ENSP00000508626.1:p.Arg685Lys | |
| ENST00000692620.1:c.932G>A | ENSP00000509311.1:p.Arg311Lys | |
| ENST00000402219.8:c.2165G>A MANE Select | ENSP00000384675.2:p.Arg722Lys | |
| ENST00000395038.6:c.2165G>A | ENSP00000378479.2:p.Arg722Lys | |
| ENST00000402219.6:c.2165G>A | ENSP00000384675.2:p.Arg722Lys | |
| ENST00000426016.5:c.2165G>A | ENSP00000387784.1:p.Arg722Lys | |
| NM_005633.3:c.2165G>A , LRG_754t1:c.2165G>A | NP_005624.2:p.Arg722Lys | |
| XM_005264515.3:c.2165G>A | XP_005264572.1:p.Arg722Lys | |
| XM_011533060.1:c.2258G>A | XP_011531362.1:p.Arg753Lys | |
| XM_011533061.1:c.2258G>A | XP_011531363.1:p.Arg753Lys | |
| XM_011533062.1:c.2144G>A | XP_011531364.1:p.Arg715Lys | |
| XM_011533063.1:c.2141G>A | XP_011531365.1:p.Arg714Lys | |
| XM_011533064.1:c.1994G>A | XP_011531366.1:p.Arg665Lys | |
| XM_011533065.1:c.2258G>A | XP_011531367.1:p.Arg753Lys | |
| XM_011533066.1:c.1100G>A | XP_011531368.1:p.Arg367Lys | |
| XM_005264515.4:c.2165G>A | XP_005264572.1:p.Arg722Lys | |
| XM_011533062.2:c.2144G>A | XP_011531364.1:p.Arg715Lys | |
| XM_011533064.2:c.1994G>A | XP_011531366.1:p.Arg665Lys | |
| NM_001382394.1:c.2144G>A | NP_001369323.1:p.Arg715Lys | |
| NM_001382395.1:c.2165G>A | NP_001369324.1:p.Arg722Lys | |
| NM_005633.4:c.2165G>A MANE Select | NP_005624.2:p.Arg722Lys |