Linked Data
ClinVar Variation Id:
256188
dbSNP Id:
rs4151031
ExAC:
11:36596200 G / A
gnomAD v2:
11-36596200-G-A
gnomAD v3:
11-36574650-G-A
gnomAD v4:
11-36574650-G-A
ERepo:
CA5950130/MONDO:0000572/123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36574650G>A , CM000673.2:g.36574650G>A | GRCh38 |
| NC_000011.9:g.36596200G>A , CM000673.1:g.36596200G>A | GRCh37 |
| NC_000011.8:g.36552776G>A | NCBI36 |
| NG_007528.1:g.11638G>A , LRG_98:g.11638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.1346G>A | ENSP00000513411.1:p.Arg449Lys | |
| ENST00000697714.1:c.1346G>A | ENSP00000513412.1:p.Arg449Lys | |
| ENST00000697715.1:c.1346G>A | ENSP00000513413.1:p.Arg449Lys | |
| ENST00000299440.6:c.1346G>A MANE Select | ENSP00000299440.5:p.Arg449Lys | |
| ENST00000299440.5:c.1346G>A | ENSP00000299440.5:p.Arg449Lys | |
| ENST00000534663.1:c.1346G>A | ENSP00000434610.1:p.Arg449Lys | |
| NM_000448.2:c.1346G>A , LRG_98t1:c.1346G>A | NP_000439.1:p.Arg449Lys | |
| XM_005253041.3:c.1346G>A | XP_005253098.1:p.Arg449Lys | |
| XM_011520250.1:c.1346G>A | XP_011518552.1:p.Arg449Lys | |
| XM_011520251.1:c.1346G>A | XP_011518553.1:p.Arg449Lys | |
| XM_005253041.4:c.1346G>A | XP_005253098.1:p.Arg449Lys | |
| XM_011520250.2:c.1346G>A | XP_011518552.1:p.Arg449Lys | |
| NM_000448.3:c.1346G>A MANE Select | NP_000439.2:p.Arg449Lys | |
| NM_001377277.1:c.1346G>A | NP_001364206.1:p.Arg449Lys | |
| NM_001377278.1:c.1346G>A | NP_001364207.1:p.Arg449Lys | |
| NM_001377279.1:c.1346G>A | NP_001364208.1:p.Arg449Lys | |
| NM_001377280.1:c.1346G>A | NP_001364209.1:p.Arg449Lys |