Linked Data
ClinVar Variation Id:
2292068
ClinVar RCV Id:
RCV002849319
dbSNP Id:
rs763638412
ExAC:
2:163137915 G / C
gnomAD v2:
2-163137915-G-C
gnomAD v3:
2-162281405-G-C
gnomAD v4:
2-162281405-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281405G>C , CM000664.2:g.162281405G>C | GRCh38 |
| NC_000002.11:g.163137915G>C , CM000664.1:g.163137915G>C | GRCh37 |
| NC_000002.10:g.162846161G>C | NCBI36 |
| NG_011495.1:g.42125C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1044C>G | ENSP00000513228.1:n.*1044C>G | |
| ENST00000648433.1:c.1447C>G | ENSP00000496816.1:p.Gln483Glu | |
| ENST00000649554.1:n.1057C>G | ||
| ENST00000649979.2:c.1447C>G MANE Select | ENSP00000497271.1:p.Gln483Glu | |
| ENST00000679938.1:c.1135C>G | ENSP00000505518.1:p.Gln379Glu | |
| ENST00000263642.2:c.1447C>G | ENSP00000263642.2:p.Gln483Glu | |
| NM_022168.3:c.1447C>G | NP_071451.2:p.Gln483Glu | |
| XM_011511628.1:c.730C>G | XP_011509930.1:p.Gln244Glu | |
| XM_011511629.1:c.1447C>G | XP_011509931.1:p.Gln483Glu | |
| NM_022168.4:c.1447C>G MANE Select | NP_071451.2:p.Gln483Glu |