Linked Data
ClinVar Variation Id:
1404422
ClinVar RCV Id:
RCV001927725
dbSNP Id:
rs544726387
ExAC:
11:36596778 A / C
gnomAD v2:
11-36596778-A-C
gnomAD v3:
11-36575228-A-C
gnomAD v4:
11-36575228-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36575228A>C , CM000673.2:g.36575228A>C | GRCh38 |
| NC_000011.9:g.36596778A>C , CM000673.1:g.36596778A>C | GRCh37 |
| NC_000011.8:g.36553354A>C | NCBI36 |
| NG_007528.1:g.12216A>C , LRG_98:g.12216A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.1924A>C | ENSP00000513411.1:p.Lys642Gln | |
| ENST00000697714.1:c.1924A>C | ENSP00000513412.1:p.Lys642Gln | |
| ENST00000697715.1:c.1924A>C | ENSP00000513413.1:p.Lys642Gln | |
| ENST00000299440.6:c.1924A>C MANE Select | ENSP00000299440.5:p.Lys642Gln | |
| ENST00000299440.5:c.1924A>C | ENSP00000299440.5:p.Lys642Gln | |
| ENST00000534663.1:c.1924A>C | ENSP00000434610.1:p.Lys642Gln | |
| NM_000448.2:c.1924A>C , LRG_98t1:c.1924A>C | NP_000439.1:p.Lys642Gln | |
| XM_005253041.3:c.1924A>C | XP_005253098.1:p.Lys642Gln | |
| XM_011520250.1:c.1924A>C | XP_011518552.1:p.Lys642Gln | |
| XM_011520251.1:c.1924A>C | XP_011518553.1:p.Lys642Gln | |
| XM_005253041.4:c.1924A>C | XP_005253098.1:p.Lys642Gln | |
| XM_011520250.2:c.1924A>C | XP_011518552.1:p.Lys642Gln | |
| NM_000448.3:c.1924A>C MANE Select | NP_000439.2:p.Lys642Gln | |
| NM_001377277.1:c.1924A>C | NP_001364206.1:p.Lys642Gln | |
| NM_001377278.1:c.1924A>C | NP_001364207.1:p.Lys642Gln | |
| NM_001377279.1:c.1924A>C | NP_001364208.1:p.Lys642Gln | |
| NM_001377280.1:c.1924A>C | NP_001364209.1:p.Lys642Gln |