Linked Data
ClinVar Variation Id:
1339820
ClinVar RCV Id:
RCV001825203
dbSNP Id:
rs2124785718
gnomAD v4:
1-26729838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26729838T>C , CM000663.2:g.26729838T>C | GRCh38 |
| NC_000001.10:g.27056329T>C , CM000663.1:g.27056329T>C | GRCh37 |
| NC_000001.9:g.26928916T>C | NCBI36 |
| NG_029965.1:g.38808T>C , LRG_875:g.38808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.1325T>C MANE Select | ENSP00000320485.7:p.Met442Thr | |
| ENST00000374152.7:c.176T>C | ENSP00000363267.2:p.Met59Thr | |
| ENST00000430799.7:c.176T>C | ENSP00000390317.3:p.Met59Thr | |
| ENST00000636219.1:c.182T>C | ENSP00000489842.1:p.Met61Thr | |
| ENST00000637465.1:c.176T>C | ENSP00000490650.1:p.Met59Thr | |
| ENST00000324856.11:c.1325T>C | ENSP00000320485.7:p.Met442Thr | |
| ENST00000374152.6:c.176T>C | ENSP00000363267.2:p.Met59Thr | |
| ENST00000457599.6:c.1325T>C | ENSP00000387636.2:p.Met442Thr | |
| ENST00000524572.1:c.176T>C | ENSP00000432473.1:p.Met59Thr | |
| ENST00000615191.4:c.176T>C | ENSP00000478955.1:p.Met59Thr | |
| NM_006015.4:c.1325T>C , LRG_875t1:c.1325T>C | NP_006006.3:p.Met442Thr | |
| NM_139135.2:c.1325T>C | NP_624361.1:p.Met442Thr | |
| NM_006015.5:c.1325T>C | NP_006006.3:p.Met442Thr | |
| NM_139135.3:c.1325T>C | NP_624361.1:p.Met442Thr | |
| NM_006015.6:c.1325T>C MANE Select | NP_006006.3:p.Met442Thr | |
| NM_139135.4:c.1325T>C | NP_624361.1:p.Met442Thr |