Linked Data
ClinVar Variation Id:
2942691
ClinVar RCV Id:
RCV003807857
dbSNP Id:
rs1359431197
gnomAD v2:
X-30327115-A-G
gnomAD v3:
X-30308998-A-G
gnomAD v4:
X-30308998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308998A>G , CM000685.2:g.30308998A>G | GRCh38 |
| NC_000023.10:g.30327115A>G , CM000685.1:g.30327115A>G | GRCh37 |
| NC_000023.9:g.30237036A>G | NCBI36 |
| NG_009814.1:g.5381T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.366T>C MANE Select | ENSP00000368253.4:p.Gly122= | |
| ENST00000378970.4:c.366T>C | ENSP00000368253.4:p.Gly122= | |
| NM_000475.4:c.366T>C | NP_000466.2:p.Gly122= | |
| NM_000475.5:c.366T>C MANE Select | NP_000466.2:p.Gly122= |