Linked Data
ClinVar Variation Id:
191251
ClinVar RCV Id:
RCV000171441
dbSNP Id:
rs786205604
gnomAD v2:
X-85211180-C-A
gnomAD v4:
X-85956175-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85956175C>A , CM000685.2:g.85956175C>A | GRCh38 |
| NC_000023.10:g.85211180C>A , CM000685.1:g.85211180C>A | GRCh37 |
| NC_000023.9:g.85097836C>A | NCBI36 |
| NG_009874.2:g.96388G>T , LRG_699:g.96388G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.1144G>T MANE Select | ENSP00000350386.2:p.Glu382Ter | |
| ENST00000357749.6:c.1144G>T | ENSP00000350386.2:p.Glu382Ter | |
| ENST00000467744.2:n.126+71316G>T | ||
| NM_000390.2:c.1144G>T , LRG_699t1:c.1144G>T | NP_000381.1:p.Glu382Ter | |
| XM_006724615.2:c.1081G>T | XP_006724678.1:p.Glu361Ter | |
| XM_011530839.1:c.700G>T | XP_011529141.1:p.Glu234Ter | |
| NM_000390.3:c.1144G>T | NP_000381.1:p.Glu382Ter | |
| NM_001320959.1:c.700G>T | NP_001307888.1:p.Glu234Ter | |
| NM_001362517.1:c.700G>T | NP_001349446.1:p.Glu234Ter | |
| NM_001362518.1:c.700G>T | NP_001349447.1:p.Glu234Ter | |
| NM_001362519.1:c.700G>T | NP_001349448.1:p.Glu234Ter | |
| XM_017029242.2:c.1144G>T | XP_016884731.1:p.Glu382Ter | |
| XM_017029246.1:c.700G>T | XP_016884735.1:p.Glu234Ter | |
| XM_024452331.1:c.700G>T | XP_024308099.1:p.Glu234Ter | |
| NM_000390.4:c.1144G>T MANE Select | NP_000381.1:p.Glu382Ter | |
| NM_001362518.2:c.700G>T | NP_001349447.1:p.Glu234Ter |