Linked Data
ClinVar Variation Id:
36610
ClinVar RCV Id:
RCV000030288
RCV000035545
RCV000172828
RCV000205320
RCV000250594
RCV000393234
RCV000625021
RCV000712370
RCV000771144
RCV000852650
RCV002482920
dbSNP Id:
rs11570112
ExAC:
11:47355475 G / C
gnomAD v2:
11-47355475-G-C
gnomAD v3:
11-47333924-G-C
gnomAD v4:
11-47333924-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333924G>C , CM000673.2:g.47333924G>C | GRCh38 |
| NC_000011.9:g.47355475G>C , CM000673.1:g.47355475G>C | GRCh37 |
| NC_000011.8:g.47312051G>C | NCBI36 |
| NG_007667.1:g.23779C>G , LRG_386:g.23779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2992C>G MANE Select | ENSP00000442795.1:p.Gln998Glu | |
| ENST00000256993.8:c.2992C>G | ENSP00000256993.5:p.Gln998Glu | |
| ENST00000399249.6:c.2992C>G | ENSP00000382193.2:p.Gln998Glu | |
| ENST00000545968.5:c.2992C>G | ENSP00000442795.1:p.Gln998Glu | |
| NM_000256.3:c.2992C>G , LRG_386t1:c.2992C>G MANE Select | NP_000247.2:p.Gln998Glu | |
| XM_011520117.1:c.2974C>G | XP_011518419.1:p.Gln992Glu | |
| XM_011520118.1:c.2911C>G | XP_011518420.1:p.Gln971Glu |