Linked Data
ClinVar Variation Id:
389492
dbSNP Id:
rs199879444
ExAC:
11:68704087 C / T
gnomAD v2:
11-68704087-C-T
gnomAD v3:
11-68936619-C-T
gnomAD v4:
11-68936619-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936619C>T , CM000673.2:g.68936619C>T | GRCh38 |
| NC_000011.9:g.68704087C>T , CM000673.1:g.68704087C>T | GRCh37 |
| NC_000011.8:g.68460663C>T | NCBI36 |
| NG_007976.1:g.37769C>T , LRG_250:g.37769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2139C>T MANE Select | ENSP00000255078.4:p.Asn713= | |
| ENST00000674675.1:c.383C>T | ||
| ENST00000674878.1:c.383C>T | ||
| ENST00000674955.1:c.*856C>T | ENSP00000502463.1:n.*856C>T | |
| ENST00000675118.1:c.1627C>T | ||
| ENST00000675389.1:n.414C>T | ||
| ENST00000675615.1:c.2139C>T | ENSP00000502413.1:p.Asn713= | |
| ENST00000675648.1:n.1514C>T | ||
| ENST00000675916.1:c.383C>T | ||
| ENST00000676173.1:n.2884C>T | ||
| ENST00000676182.1:c.570C>T | ||
| ENST00000676228.1:c.*1462C>T | ENSP00000502375.1:n.*1462C>T | |
| ENST00000255078.7:c.2139C>T | ENSP00000255078.3:p.Asn713= | |
| ENST00000539064.5:n.1898C>T | ||
| ENST00000543739.5:n.1132C>T | ||
| NM_002180.2:c.2139C>T , LRG_250t1:c.2139C>T | NP_002171.2:p.Asn713= | |
| XM_005273974.2:c.1128C>T | XP_005274031.1:p.Asn376= | |
| XM_005273975.2:c.1011C>T | XP_005274032.1:p.Asn337= | |
| XM_011544994.1:c.906C>T | XP_011543296.1:p.Asn302= | |
| XR_949903.1:n.2241C>T | ||
| XM_005273975.3:c.1011C>T | XP_005274032.1:p.Asn337= | |
| XM_017017669.2:c.1128C>T | XP_016873158.1:p.Asn376= | |
| XM_017017670.2:c.1128C>T | XP_016873159.1:p.Asn376= | |
| XR_949903.3:n.2237C>T | ||
| NM_002180.3:c.2139C>T MANE Select | NP_002171.2:p.Asn713= |