Linked Data
ClinVar Variation Id:
214146
dbSNP Id:
rs202182817
ExAC:
9:93983200 C / T
gnomAD v2:
9-93983200-C-T
gnomAD v3:
9-91220918-C-T
gnomAD v4:
9-91220918-C-T
COSMIC:
COSM3908805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91220918C>T , CM000671.2:g.91220918C>T | GRCh38 |
| NC_000009.11:g.93983200C>T , CM000671.1:g.93983200C>T | GRCh37 |
| NC_000009.10:g.93023021C>T | NCBI36 |
| NG_008017.1:g.146007G>A , LRG_449:g.146007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.730G>A MANE Select | ENSP00000364883.5:p.Asp244Asn | |
| ENST00000303617.5:c.643G>A | ENSP00000307334.5:p.Asp215Asn | |
| ENST00000375731.8:c.730G>A | ENSP00000364883.4:p.Asp244Asn | |
| ENST00000473695.1:n.2G>A | ||
| NM_001306190.1:c.643G>A | NP_001293119.1:p.Asp215Asn | |
| NM_001698.2:c.730G>A , LRG_449t1:c.730G>A | NP_001689.1:p.Asp244Asn | |
| XM_005252066.2:c.760G>A | XP_005252123.1:p.Asp254Asn | |
| XM_005252067.3:c.760G>A | XP_005252124.1:p.Asp254Asn | |
| XM_005252069.3:c.760G>A | XP_005252126.1:p.Asp254Asn | |
| XM_005252073.2:c.268G>A | XP_005252130.1:p.Asp90Asn | |
| XM_006717150.2:c.673G>A | XP_006717213.1:p.Asp225Asn | |
| XM_011518801.1:c.406G>A | XP_011517103.1:p.Asp136Asn | |
| XM_011518802.1:c.403G>A | XP_011517104.1:p.Asp135Asn | |
| NM_001351431.1:c.403G>A | NP_001338360.1:p.Asp135Asn | |
| NM_001351432.1:c.403G>A | NP_001338361.1:p.Asp135Asn | |
| NM_001351433.1:c.403G>A | NP_001338362.1:p.Asp135Asn | |
| XM_005252066.3:c.760G>A | XP_005252123.1:p.Asp254Asn | |
| XM_005252067.4:c.760G>A | XP_005252124.1:p.Asp254Asn | |
| XM_005252069.4:c.760G>A | XP_005252126.1:p.Asp254Asn | |
| XM_006717150.3:c.673G>A | XP_006717213.1:p.Asp225Asn | |
| XM_017014849.1:c.730G>A | XP_016870338.1:p.Asp244Asn | |
| XR_001746328.2:n.955G>A | ||
| XR_001746329.2:n.907G>A | ||
| NM_001698.3:c.730G>A MANE Select | NP_001689.1:p.Asp244Asn | |
| NM_001306190.2:c.643G>A | NP_001293119.1:p.Asp215Asn | |
| NM_001351431.2:c.403G>A | NP_001338360.1:p.Asp135Asn | |
| NM_001351432.2:c.403G>A | NP_001338361.1:p.Asp135Asn | |
| NM_001351433.2:c.403G>A | NP_001338362.1:p.Asp135Asn |