Linked Data
ClinVar Variation Id:
2049383
ClinVar RCV Id:
RCV002909684
dbSNP Id:
rs566889429
ExAC:
5:35873743 T / C
gnomAD v2:
5-35873743-T-C
gnomAD v4:
5-35873641-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873641T>C , CM000667.2:g.35873641T>C | GRCh38 |
| NC_000005.9:g.35873743T>C , CM000667.1:g.35873743T>C | GRCh37 |
| NC_000005.8:g.35909500T>C | NCBI36 |
| NG_009567.1:g.21753T>C , LRG_74:g.21753T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.699T>C MANE Select | ENSP00000306157.3:p.Asn233= | |
| ENST00000303115.7:c.699T>C | ENSP00000306157.3:p.Asn233= | |
| ENST00000505093.1:c.108T>C | ENSP00000426069.1:p.Asn36= | |
| ENST00000506850.5:c.699T>C | ENSP00000421207.1:p.Asn233= | |
| ENST00000509668.1:n.441T>C | ||
| ENST00000514217.5:c.538-1871T>C | ENSP00000427688.1:n.538-1871T>C | |
| NM_002185.3:c.699T>C | NP_002176.2:p.Asn233= | |
| NR_120485.1:n.641-1871T>C | ||
| XM_005248299.2:c.699T>C | XP_005248356.1:p.Asn233= | |
| XM_005248300.1:c.699T>C | XP_005248357.1:p.Asn233= | |
| XM_011514037.1:c.699T>C | XP_011512339.1:p.Asn233= | |
| NM_002185.4:c.699T>C | NP_002176.2:p.Asn233= | |
| NR_120485.2:n.667-1871T>C | ||
| XM_005248299.4:c.699T>C | XP_005248356.1:p.Asn233= | |
| NM_002185.5:c.699T>C MANE Select | NP_002176.2:p.Asn233= | |
| NR_120485.3:n.625-1871T>C |