Linked Data
ClinVar Variation Id:
523404
ClinVar RCV Id:
RCV000626748
dbSNP Id:
rs1156605251
gnomAD v2:
X-79279653-A-C
gnomAD v3:
X-80024154-A-C
gnomAD v4:
X-80024154-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80024154A>C , CM000685.2:g.80024154A>C | GRCh38 |
| NC_000023.10:g.79279653A>C , CM000685.1:g.79279653A>C | GRCh37 |
| NC_000023.9:g.79166309A>C | NCBI36 |
| NG_008998.1:g.14399A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373296.8:c.448A>C MANE Select | ENSP00000362393.3:p.Lys150Gln | |
| ENST00000373294.8:c.448A>C | ENSP00000362390.5:p.Lys150Gln | |
| ENST00000373296.7:c.448A>C | ENSP00000362393.3:p.Lys150Gln | |
| ENST00000626498.2:c.*60A>C | ENSP00000487527.1:n.*60A>C | |
| ENST00000626877.1:n.327A>C | ||
| NM_001109878.1:c.448A>C | NP_001103348.1:p.Lys150Gln | |
| NM_001109879.1:c.88A>C | NP_001103349.1:p.Lys30Gln | |
| NM_001303475.1:c.88A>C | NP_001290404.1:p.Lys30Gln | |
| NM_016954.2:c.448A>C | NP_058650.1:p.Lys150Gln | |
| XM_005262136.2:c.451A>C | XP_005262193.1:p.Lys151Gln | |
| XM_006724657.2:c.451A>C | XP_006724720.1:p.Lys151Gln | |
| XM_011530972.1:c.88A>C | XP_011529274.1:p.Lys30Gln | |
| NM_001109878.2:c.448A>C MANE Select | NP_001103348.1:p.Lys150Gln | |
| NM_001109879.2:c.88A>C | NP_001103349.1:p.Lys30Gln |