Linked Data
ClinVar Variation Id:
161685
ClinVar RCV Id:
RCV000149221
dbSNP Id:
rs193921013
ExAC:
1:229771732 C / G
gnomAD v2:
1-229771732-C-G
gnomAD v4:
1-229635985-C-G
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229635985C>G , CM000663.2:g.229635985C>G | GRCh38 |
| NC_000001.10:g.229771732C>G , CM000663.1:g.229771732C>G | GRCh37 |
| NC_000001.9:g.227838355C>G | NCBI36 |
| NG_050743.1:g.14781C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258243.7:c.1372C>G MANE Select | ENSP00000258243.2:p.Gln458Glu | |
| ENST00000258243.6:c.1372C>G | ENSP00000258243.2:p.Gln458Glu | |
| NM_001314021.1:c.1372C>G | NP_001300950.1:p.Gln458Glu | |
| NM_014777.2:c.1372C>G | NP_055592.2:p.Gln458Glu | |
| NM_014777.3:c.1372C>G | NP_055592.2:p.Gln458Glu | |
| XM_005273360.2:c.1372C>G | XP_005273417.1:p.Gln458Glu | |
| XM_005273360.3:c.1372C>G | XP_005273417.1:p.Gln458Glu | |
| NM_014777.4:c.1372C>G MANE Select | NP_055592.2:p.Gln458Glu | |
| NM_001314021.2:c.1372C>G | NP_001300950.1:p.Gln458Glu |