Linked Data
ClinVar Variation Id:
2994973
ClinVar RCV Id:
RCV003858596
dbSNP Id:
rs764943429
ExAC:
11:67379721 C / T
gnomAD v2:
11-67379721-C-T
gnomAD v3:
11-67612250-C-T
gnomAD v4:
11-67612250-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67612250C>T , CM000673.2:g.67612250C>T | GRCh38 |
| NC_000011.9:g.67379721C>T , CM000673.1:g.67379721C>T | GRCh37 |
| NC_000011.8:g.67136297C>T | NCBI36 |
| NG_013353.1:g.10399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1293C>T MANE Select | ENSP00000322450.6:p.Ala431= | |
| ENST00000647561.1:c.1293C>T | ENSP00000497587.1:p.Ala431= | |
| ENST00000322776.10:c.1293C>T | ENSP00000322450.6:p.Ala431= | |
| ENST00000415352.6:c.1272C>T | ENSP00000395368.2:p.Ala424= | |
| ENST00000526770.5:n.1576C>T | ||
| ENST00000527355.5:c.500C>T | ENSP00000432637.1:n.500C>T | |
| ENST00000529927.5:c.1266C>T | ENSP00000436766.1:p.Ala422= | |
| ENST00000531250.1:n.557C>T | ||
| ENST00000532303.5:c.990C>T | ENSP00000432015.1:p.Ala330= | |
| ENST00000533919.5:c.697C>T | ENSP00000435199.1:n.697C>T | |
| ENST00000534352.1:n.532C>T | ||
| NM_001166102.1:c.1266C>T | NP_001159574.1:p.Ala422= | |
| NM_007103.3:c.1293C>T | NP_009034.2:p.Ala431= | |
| NM_001166102.2:c.1266C>T | NP_001159574.1:p.Ala422= | |
| NM_007103.4:c.1293C>T MANE Select | NP_009034.2:p.Ala431= |