Linked Data
ClinVar Variation Id:
2997859
ClinVar RCV Id:
RCV003854458
dbSNP Id:
rs368139042
gnomAD v3:
11-67610503-G-T
gnomAD v4:
11-67610503-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610503G>T , CM000673.2:g.67610503G>T | GRCh38 |
| NC_000011.9:g.67377974G>T , CM000673.1:g.67377974G>T | GRCh37 |
| NC_000011.8:g.67134550G>T | NCBI36 |
| NG_013353.1:g.8652G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.633G>T MANE Select | ENSP00000322450.6:p.Ala211= | |
| ENST00000647561.1:c.633G>T | ENSP00000497587.1:p.Ala211= | |
| ENST00000322776.10:c.633G>T | ENSP00000322450.6:p.Ala211= | |
| ENST00000415352.6:c.612G>T | ENSP00000395368.2:p.Ala204= | |
| ENST00000526169.1:n.375G>T | ||
| ENST00000526770.5:n.492G>T | ||
| ENST00000529927.5:c.606G>T | ENSP00000436766.1:p.Ala202= | |
| ENST00000532244.5:c.330G>T | ENSP00000435202.1:p.Ala110= | |
| ENST00000532303.5:c.330G>T | ENSP00000432015.1:p.Ala110= | |
| ENST00000533919.5:c.111G>T | ENSP00000435199.1:p.Ala37= | |
| NM_001166102.1:c.606G>T | NP_001159574.1:p.Ala202= | |
| NM_007103.3:c.633G>T | NP_009034.2:p.Ala211= | |
| NM_001166102.2:c.606G>T | NP_001159574.1:p.Ala202= | |
| NM_007103.4:c.633G>T MANE Select | NP_009034.2:p.Ala211= |