Linked Data
ClinVar Variation Id:
2800231
ClinVar RCV Id:
RCV003671400
dbSNP Id:
rs750126726
ExAC:
6:31937483 C / T
gnomAD v2:
6-31937483-C-T
gnomAD v4:
6-31969706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969706C>T , CM000668.2:g.31969706C>T | GRCh38 |
| NC_000006.11:g.31937483C>T , CM000668.1:g.31937483C>T | GRCh37 |
| NC_000006.10:g.32045462C>T | NCBI36 |
| NG_032652.1:g.15903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2780C>T | ENSP00000419905.1:n.*2780C>T | |
| ENST00000485349.6:n.4208C>T | ||
| ENST00000491994.2:c.*274C>T | ENSP00000417586.2:n.*274C>T | |
| ENST00000494058.6:n.4034C>T | ||
| ENST00000697831.1:c.3663C>T | ENSP00000513453.1:p.Tyr1221= | |
| ENST00000697832.1:n.3885C>T | ||
| ENST00000697834.1:n.4450C>T | ||
| ENST00000697835.1:c.*3250C>T | ENSP00000513455.1:n.*3250C>T | |
| ENST00000697837.1:c.*848C>T | ENSP00000513456.1:n.*848C>T | |
| ENST00000697838.1:c.3597C>T | ENSP00000513457.1:p.Tyr1199= | |
| ENST00000697839.1:n.4544C>T | ||
| ENST00000697840.1:c.3768C>T | ENSP00000513458.1:p.Tyr1256= | |
| ENST00000697841.1:n.4643C>T | ||
| ENST00000697842.1:n.3987C>T | ||
| ENST00000375394.7:c.3732C>T MANE Select | ENSP00000364543.2:p.Tyr1244= | |
| ENST00000375394.6:c.3732C>T | ENSP00000364543.2:p.Tyr1244= | |
| ENST00000465703.5:n.4462C>T | ||
| ENST00000471818.1:n.661C>T | ||
| ENST00000474839.5:c.*3104C>T | ENSP00000420470.1:n.*3104C>T | |
| ENST00000483553.5:c.1262C>T | ||
| ENST00000491994.1:c.821C>T | ||
| NM_006929.4:c.3732C>T | NP_008860.4:p.Tyr1244= | |
| XR_926301.3:n.3748C>T | ||
| NM_006929.5:c.3732C>T MANE Select | NP_008860.4:p.Tyr1244= |