Linked Data
ClinVar Variation Id:
1974048
ClinVar RCV Id:
RCV002741172
dbSNP Id:
rs1317477504
gnomAD v3:
11-124636981-A-G
gnomAD v4:
11-124636981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124636981A>G , CM000673.2:g.124636981A>G | GRCh38 |
| NC_000011.9:g.124506877A>G , CM000673.1:g.124506877A>G | GRCh37 |
| NC_000011.8:g.124012087A>G | NCBI36 |
| NG_028132.1:g.44323T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.1542T>C MANE Select | ENSP00000263593.3:p.Gly514= | |
| ENST00000263593.7:c.1542T>C | ENSP00000263593.3:p.Gly514= | |
| ENST00000545756.5:c.1437T>C | ENSP00000437877.1:p.Gly479= | |
| ENST00000618733.4:c.1437T>C | ENSP00000478211.1:p.Gly479= | |
| NM_001199922.1:c.1437T>C | NP_001186851.1:p.Gly479= | |
| NM_170601.4:c.1542T>C | NP_733746.1:p.Gly514= | |
| XM_011542874.1:c.969T>C | XP_011541176.1:p.Gly323= | |
| XM_017017930.1:c.969T>C | XP_016873419.1:p.Gly323= | |
| NM_170601.5:c.1542T>C MANE Select | NP_733746.1:p.Gly514= | |
| NM_001199922.2:c.1437T>C | NP_001186851.1:p.Gly479= |