Linked Data
ClinVar Variation Id:
2875163
ClinVar RCV Id:
RCV003714947
gnomAD v4:
6-31969700-C-T
MyVariant Identifiers:
chr6:g.31937477C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969700C>T , CM000668.2:g.31969700C>T | GRCh38 |
| NC_000006.11:g.31937477C>T , CM000668.1:g.31937477C>T | GRCh37 |
| NC_000006.10:g.32045456C>T | NCBI36 |
| NG_032652.1:g.15897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2774C>T | ENSP00000419905.1:n.*2774C>T | |
| ENST00000485349.6:n.4202C>T | ||
| ENST00000491994.2:c.*268C>T | ENSP00000417586.2:n.*268C>T | |
| ENST00000494058.6:n.4028C>T | ||
| ENST00000697831.1:c.3657C>T | ENSP00000513453.1:p.Ser1219= | |
| ENST00000697832.1:n.3879C>T | ||
| ENST00000697834.1:n.4444C>T | ||
| ENST00000697835.1:c.*3244C>T | ENSP00000513455.1:n.*3244C>T | |
| ENST00000697837.1:c.*842C>T | ENSP00000513456.1:n.*842C>T | |
| ENST00000697838.1:c.3591C>T | ENSP00000513457.1:p.Ser1197= | |
| ENST00000697839.1:n.4538C>T | ||
| ENST00000697840.1:c.3762C>T | ENSP00000513458.1:p.Ser1254= | |
| ENST00000697841.1:n.4637C>T | ||
| ENST00000697842.1:n.3981C>T | ||
| ENST00000375394.7:c.3726C>T MANE Select | ENSP00000364543.2:p.Ser1242= | |
| ENST00000375394.6:c.3726C>T | ENSP00000364543.2:p.Ser1242= | |
| ENST00000465703.5:n.4456C>T | ||
| ENST00000471818.1:n.655C>T | ||
| ENST00000474839.5:c.*3098C>T | ENSP00000420470.1:n.*3098C>T | |
| ENST00000483553.5:c.1256C>T | ||
| ENST00000491994.1:c.815C>T | ||
| NM_006929.4:c.3726C>T | NP_008860.4:p.Ser1242= | |
| XR_926301.3:n.3742C>T | ||
| NM_006929.5:c.3726C>T MANE Select | NP_008860.4:p.Ser1242= |