Linked Data
ClinVar Variation Id:
1642710
ClinVar RCV Id:
RCV002145683
dbSNP Id:
rs140500193
ExAC:
6:31928015 G / T
gnomAD v2:
6-31928015-G-T
gnomAD v3:
6-31960238-G-T
gnomAD v4:
6-31960238-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31960238G>T , CM000668.2:g.31960238G>T | GRCh38 |
| NC_000006.11:g.31928015G>T , CM000668.1:g.31928015G>T | GRCh37 |
| NC_000006.10:g.32035994G>T | NCBI36 |
| NG_032652.1:g.6435G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.255G>T | ENSP00000419905.1:p.Thr85= | |
| ENST00000483553.6:c.255G>T | ENSP00000420332.2:p.Thr85= | |
| ENST00000485349.6:n.296G>T | ||
| ENST00000491994.2:c.255G>T | ENSP00000417586.2:p.Thr85= | |
| ENST00000494058.6:n.312G>T | ||
| ENST00000697831.1:c.255G>T | ENSP00000513453.1:p.Thr85= | |
| ENST00000697832.1:n.331G>T | ||
| ENST00000697833.1:c.255G>T | ENSP00000513454.1:p.Thr85= | |
| ENST00000697834.1:n.307G>T | ||
| ENST00000697835.1:c.274G>T | ENSP00000513455.1:p.Gly92Ter | |
| ENST00000697836.1:n.291G>T | ||
| ENST00000697837.1:c.255G>T | ENSP00000513456.1:p.Thr85= | |
| ENST00000697838.1:c.120G>T | ENSP00000513457.1:p.Thr40= | |
| ENST00000697839.1:n.277G>T | ||
| ENST00000697840.1:c.255G>T | ENSP00000513458.1:p.Thr85= | |
| ENST00000697841.1:n.266G>T | ||
| ENST00000697842.1:n.255G>T | ||
| ENST00000375394.7:c.255G>T MANE Select | ENSP00000364543.2:p.Thr85= | |
| ENST00000375394.6:c.255G>T | ENSP00000364543.2:p.Thr85= | |
| ENST00000461073.5:c.255G>T | ENSP00000419905.1:p.Thr85= | |
| ENST00000465703.5:n.307G>T | ||
| ENST00000474839.5:c.127-803G>T | ENSP00000420470.1:n.127-803G>T | |
| ENST00000488648.5:n.331G>T | ||
| ENST00000628157.1:c.127-803G>T | ENSP00000485707.1:n.127-803G>T | |
| NM_006929.4:c.255G>T | NP_008860.4:p.Thr85= | |
| XM_006715168.2:c.255G>T | XP_006715231.1:p.Thr85= | |
| XM_011514815.1:c.255G>T | XP_011513117.1:p.Thr85= | |
| XR_926301.1:n.343G>T | ||
| XM_011514815.3:c.255G>T | XP_011513117.1:p.Thr85= | |
| XR_001743586.2:n.291G>T | ||
| XR_926301.3:n.291G>T | ||
| NM_006929.5:c.255G>T MANE Select | NP_008860.4:p.Thr85= |