Linked Data
ClinVar Variation Id:
425011
ClinVar RCV Id:
RCV000488316
dbSNP Id:
rs1064797170
gnomAD v4:
12-64466921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64466921C>T , CM000674.2:g.64466921C>T | GRCh38 |
| NC_000012.11:g.64860701C>T , CM000674.1:g.64860701C>T | GRCh37 |
| NC_000012.10:g.63146968C>T | NCBI36 |
| NG_046906.1:g.19862C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331710.10:c.379C>T MANE Select | ENSP00000329967.5:p.Arg127Ter | |
| ENST00000650708.1:c.255C>T | ||
| ENST00000650762.1:c.223C>T | ENSP00000498758.1:p.Arg75Ter | |
| ENST00000650786.1:c.*524C>T | ENSP00000498280.1:n.*524C>T | |
| ENST00000650790.1:c.379C>T | ENSP00000498995.1:p.Arg127Ter | |
| ENST00000650997.1:c.379C>T | ENSP00000498341.1:p.Arg127Ter | |
| ENST00000651014.1:c.223C>T | ENSP00000498885.1:p.Arg75Ter | |
| ENST00000651262.1:c.379C>T | ENSP00000498461.1:p.Arg127Ter | |
| ENST00000651878.1:c.379C>T | ENSP00000499077.1:p.Arg127Ter | |
| ENST00000651889.1:n.130C>T | ||
| ENST00000651947.1:n.467C>T | ||
| ENST00000652389.1:c.379C>T | ENSP00000498414.1:p.Arg127Ter | |
| ENST00000652537.1:c.379C>T | ENSP00000499102.1:p.Arg127Ter | |
| ENST00000652657.1:c.379C>T | ENSP00000498887.1:p.Arg127Ter | |
| ENST00000676551.1:n.478C>T | ||
| ENST00000676654.1:n.508C>T | ||
| ENST00000676684.1:n.508C>T | ||
| ENST00000676809.1:c.379C>T | ENSP00000504298.1:p.Arg127Ter | |
| ENST00000676912.1:c.223C>T | ENSP00000503567.1:p.Arg75Ter | |
| ENST00000676930.1:c.379C>T | ENSP00000502899.1:p.Arg127Ter | |
| ENST00000677016.1:c.21C>T | ||
| ENST00000677112.1:c.21C>T | ||
| ENST00000677499.1:c.379C>T | ENSP00000502875.1:p.Arg127Ter | |
| ENST00000677549.1:n.441C>T | ||
| ENST00000677632.1:c.379C>T | ENSP00000504586.1:p.Arg127Ter | |
| ENST00000677641.1:c.379C>T | ENSP00000504637.1:p.Arg127Ter | |
| ENST00000677686.1:n.482C>T | ||
| ENST00000677759.1:c.236C>T | ENSP00000503847.1:p.Thr79Met | |
| ENST00000677831.1:c.379C>T | ENSP00000503760.1:p.Arg127Ter | |
| ENST00000677973.1:c.21C>T | ||
| ENST00000678079.1:c.131-58C>T | ENSP00000503613.1:n.131-58C>T | |
| ENST00000678180.1:c.379C>T | ENSP00000504132.1:p.Arg127Ter | |
| ENST00000678197.1:n.363C>T | ||
| ENST00000678738.1:c.21C>T | ||
| ENST00000678808.1:c.21C>T | ||
| ENST00000679050.1:c.341C>T | ENSP00000503595.1:n.341C>T | |
| ENST00000679302.1:c.147C>T | ENSP00000503553.1:n.147C>T | |
| ENST00000331710.9:c.379C>T | ENSP00000329967.5:p.Arg127Ter | |
| NM_013254.3:c.379C>T | NP_037386.1:p.Arg127Ter | |
| XM_005268809.1:c.379C>T | XP_005268866.1:p.Arg127Ter | |
| XM_005268810.1:c.379C>T | XP_005268867.1:p.Arg127Ter | |
| XR_944524.1:n.538C>T | ||
| XR_944525.1:n.538C>T | ||
| XR_001748674.2:n.493C>T | ||
| NM_013254.4:c.379C>T MANE Select | NP_037386.1:p.Arg127Ter |