Linked Data
ClinVar Variation Id:
595838
ClinVar RCV Id:
RCV000731498
dbSNP Id:
rs201764098
ExAC:
6:31937127 C / T
gnomAD v2:
6-31937127-C-T
gnomAD v3:
6-31969350-C-T
gnomAD v4:
6-31969350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969350C>T , CM000668.2:g.31969350C>T | GRCh38 |
| NC_000006.11:g.31937127C>T , CM000668.1:g.31937127C>T | GRCh37 |
| NC_000006.10:g.32045106C>T | NCBI36 |
| NG_032652.1:g.15547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2424C>T | ENSP00000419905.1:n.*2424C>T | |
| ENST00000483553.6:c.*437C>T | ENSP00000420332.2:n.*437C>T | |
| ENST00000485349.6:n.3946C>T | ||
| ENST00000491994.2:c.3470C>T | ENSP00000417586.2:p.Thr1157Met | |
| ENST00000494058.6:n.3772C>T | ||
| ENST00000697831.1:c.3401C>T | ENSP00000513453.1:p.Thr1134Met | |
| ENST00000697832.1:n.3623C>T | ||
| ENST00000697833.1:c.*418C>T | ENSP00000513454.1:n.*418C>T | |
| ENST00000697834.1:n.4094C>T | ||
| ENST00000697835.1:c.*2988C>T | ENSP00000513455.1:n.*2988C>T | |
| ENST00000697836.1:n.3801C>T | ||
| ENST00000697837.1:c.*586C>T | ENSP00000513456.1:n.*586C>T | |
| ENST00000697838.1:c.3335C>T | ENSP00000513457.1:p.Thr1112Met | |
| ENST00000697839.1:n.4188C>T | ||
| ENST00000697840.1:c.3506C>T | ENSP00000513458.1:p.Thr1169Met | |
| ENST00000697841.1:n.4287C>T | ||
| ENST00000697842.1:n.3725C>T | ||
| ENST00000375394.7:c.3470C>T MANE Select | ENSP00000364543.2:p.Thr1157Met | |
| ENST00000375394.6:c.3470C>T | ENSP00000364543.2:p.Thr1157Met | |
| ENST00000465703.5:n.4106C>T | ||
| ENST00000470453.1:n.382+34C>T | ||
| ENST00000471818.1:n.399C>T | ||
| ENST00000474839.5:c.*2842C>T | ENSP00000420470.1:n.*2842C>T | |
| ENST00000483553.5:c.906C>T | ||
| ENST00000485349.5:n.676C>T | ||
| ENST00000491994.1:c.465C>T | ||
| NM_006929.4:c.3470C>T | NP_008860.4:p.Thr1157Met | |
| XR_001743586.2:n.3569C>T | ||
| XR_926301.3:n.3486C>T | ||
| NM_006929.5:c.3470C>T MANE Select | NP_008860.4:p.Thr1157Met |