Linked Data
dbSNP Id:
rs770272489
ExAC:
6:31937142 T / C
gnomAD v2:
6-31937142-T-C
gnomAD v3:
6-31969365-T-C
gnomAD v4:
6-31969365-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969365T>C , CM000668.2:g.31969365T>C | GRCh38 |
| NC_000006.11:g.31937142T>C , CM000668.1:g.31937142T>C | GRCh37 |
| NC_000006.10:g.32045121T>C | NCBI36 |
| NG_032652.1:g.15562T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2439T>C | ENSP00000419905.1:n.*2439T>C | |
| ENST00000483553.6:c.*452T>C | ENSP00000420332.2:n.*452T>C | |
| ENST00000485349.6:n.3961T>C | ||
| ENST00000491994.2:c.3485T>C | ENSP00000417586.2:p.Val1162Ala | |
| ENST00000494058.6:n.3787T>C | ||
| ENST00000697831.1:c.3416T>C | ENSP00000513453.1:p.Val1139Ala | |
| ENST00000697832.1:n.3638T>C | ||
| ENST00000697833.1:c.*433T>C | ENSP00000513454.1:n.*433T>C | |
| ENST00000697834.1:n.4109T>C | ||
| ENST00000697835.1:c.*3003T>C | ENSP00000513455.1:n.*3003T>C | |
| ENST00000697836.1:n.3816T>C | ||
| ENST00000697837.1:c.*601T>C | ENSP00000513456.1:n.*601T>C | |
| ENST00000697838.1:c.3350T>C | ENSP00000513457.1:p.Val1117Ala | |
| ENST00000697839.1:n.4203T>C | ||
| ENST00000697840.1:c.3521T>C | ENSP00000513458.1:p.Val1174Ala | |
| ENST00000697841.1:n.4302T>C | ||
| ENST00000697842.1:n.3740T>C | ||
| ENST00000375394.7:c.3485T>C MANE Select | ENSP00000364543.2:p.Val1162Ala | |
| ENST00000375394.6:c.3485T>C | ENSP00000364543.2:p.Val1162Ala | |
| ENST00000465703.5:n.4121T>C | ||
| ENST00000470453.1:n.382+49T>C | ||
| ENST00000471818.1:n.414T>C | ||
| ENST00000474839.5:c.*2857T>C | ENSP00000420470.1:n.*2857T>C | |
| ENST00000483553.5:c.921T>C | ||
| ENST00000485349.5:n.691T>C | ||
| ENST00000491994.1:c.480T>C | ||
| NM_006929.4:c.3485T>C | NP_008860.4:p.Val1162Ala | |
| XR_001743586.2:n.3584T>C | ||
| XR_926301.3:n.3501T>C | ||
| NM_006929.5:c.3485T>C MANE Select | NP_008860.4:p.Val1162Ala |