Linked Data
dbSNP Id:
rs749805656
ExAC:
6:31937292 C / T
gnomAD v2:
6-31937292-C-T
gnomAD v4:
6-31969515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969515C>T , CM000668.2:g.31969515C>T | GRCh38 |
| NC_000006.11:g.31937292C>T , CM000668.1:g.31937292C>T | GRCh37 |
| NC_000006.10:g.32045271C>T | NCBI36 |
| NG_032652.1:g.15712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2589C>T | ENSP00000419905.1:n.*2589C>T | |
| ENST00000485349.6:n.4017C>T | ||
| ENST00000491994.2:c.*83C>T | ENSP00000417586.2:n.*83C>T | |
| ENST00000494058.6:n.3843C>T | ||
| ENST00000697831.1:c.3472C>T | ENSP00000513453.1:p.Pro1158Ser | |
| ENST00000697832.1:n.3694C>T | ||
| ENST00000697833.1:c.*489C>T | ENSP00000513454.1:n.*489C>T | |
| ENST00000697834.1:n.4259C>T | ||
| ENST00000697835.1:c.*3059C>T | ENSP00000513455.1:n.*3059C>T | |
| ENST00000697836.1:n.3895C>T | ||
| ENST00000697837.1:c.*657C>T | ENSP00000513456.1:n.*657C>T | |
| ENST00000697838.1:c.3406C>T | ENSP00000513457.1:p.Pro1136Ser | |
| ENST00000697839.1:n.4353C>T | ||
| ENST00000697840.1:c.3577C>T | ENSP00000513458.1:p.Pro1193Ser | |
| ENST00000697841.1:n.4452C>T | ||
| ENST00000697842.1:n.3796C>T | ||
| ENST00000375394.7:c.3541C>T MANE Select | ENSP00000364543.2:p.Pro1181Ser | |
| ENST00000375394.6:c.3541C>T | ENSP00000364543.2:p.Pro1181Ser | |
| ENST00000465703.5:n.4271C>T | ||
| ENST00000470453.1:n.383C>T | ||
| ENST00000471818.1:n.470C>T | ||
| ENST00000474839.5:c.*2913C>T | ENSP00000420470.1:n.*2913C>T | |
| ENST00000483553.5:c.1071C>T | ||
| ENST00000491994.1:c.630C>T | ||
| NM_006929.4:c.3541C>T | NP_008860.4:p.Pro1181Ser | |
| XR_926301.3:n.3557C>T | ||
| NM_006929.5:c.3541C>T MANE Select | NP_008860.4:p.Pro1181Ser |