Linked Data
ClinVar Variation Id:
1520454
ClinVar RCV Id:
RCV002024980
dbSNP Id:
rs749626609
ExAC:
11:67378047 G / T
gnomAD v2:
11-67378047-G-T
gnomAD v3:
11-67610576-G-T
gnomAD v4:
11-67610576-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610576G>T , CM000673.2:g.67610576G>T | GRCh38 |
| NC_000011.9:g.67378047G>T , CM000673.1:g.67378047G>T | GRCh37 |
| NC_000011.8:g.67134623G>T | NCBI36 |
| NG_013353.1:g.8725G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.700+6G>T MANE Select | ENSP00000322450.6:n.700+6G>T | |
| ENST00000647561.1:c.700+6G>T | ENSP00000497587.1:n.700+6G>T | |
| ENST00000322776.10:c.700+6G>T | ENSP00000322450.6:n.700+6G>T | |
| ENST00000415352.6:c.679+6G>T | ENSP00000395368.2:n.679+6G>T | |
| ENST00000526169.1:n.442+6G>T | ||
| ENST00000526770.5:n.565G>T | ||
| ENST00000529927.5:c.673+6G>T | ENSP00000436766.1:n.673+6G>T | |
| ENST00000532244.5:c.403G>T | ENSP00000435202.1:p.Ala135Ser | |
| ENST00000532303.5:c.397+6G>T | ENSP00000432015.1:n.397+6G>T | |
| ENST00000533919.5:c.178+6G>T | ENSP00000435199.1:n.178+6G>T | |
| NM_001166102.1:c.673+6G>T | NP_001159574.1:n.673+6G>T | |
| NM_007103.3:c.700+6G>T | NP_009034.2:n.700+6G>T | |
| NM_001166102.2:c.673+6G>T | NP_001159574.1:n.673+6G>T | |
| NM_007103.4:c.700+6G>T MANE Select | NP_009034.2:n.700+6G>T |