Linked Data
ClinVar Variation Id:
361712
ClinVar RCV Id:
RCV000264449
RCV000465535
RCV000607572
RCV001088113
RCV001848712
RCV002502393
RCV003932495
dbSNP Id:
rs34569226
ExAC:
8:126044593 T / C
gnomAD v2:
8-126044593-T-C
gnomAD v3:
8-125032351-T-C
gnomAD v4:
8-125032351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125032351T>C , CM000670.2:g.125032351T>C | GRCh38 |
| NC_000008.10:g.126044593T>C , CM000670.1:g.126044593T>C | GRCh37 |
| NC_000008.9:g.126113775T>C | NCBI36 |
| NG_012636.1:g.64469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.3225A>G MANE Select | ENSP00000318016.7:p.Pro1075= | |
| ENST00000318410.11:c.3225A>G | ENSP00000318016.7:p.Pro1075= | |
| ENST00000517845.5:c.2781A>G | ENSP00000429676.1:p.Pro927= | |
| ENST00000519042.2:n.364A>G | ||
| NM_014846.3:c.3225A>G | NP_055661.3:p.Pro1075= | |
| XM_005251120.2:c.2781A>G | XP_005251177.1:p.Pro927= | |
| NM_001330609.1:c.2781A>G | NP_001317538.1:p.Pro927= | |
| XM_017014113.2:c.3225A>G | XP_016869602.1:p.Pro1075= | |
| NM_014846.4:c.3225A>G MANE Select | NP_055661.3:p.Pro1075= | |
| NM_001330609.2:c.2781A>G | NP_001317538.1:p.Pro927= |