Linked Data
ClinVar Variation Id:
2416990
ClinVar RCV Id:
RCV003111818
dbSNP Id:
rs1484189222
gnomAD v3:
16-81354524-T-C
gnomAD v4:
16-81354524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354524T>C , CM000678.2:g.81354524T>C | GRCh38 |
| NC_000016.9:g.81388129T>C , CM000678.1:g.81388129T>C | GRCh37 |
| NC_000016.8:g.79945630T>C | NCBI36 |
| NG_009007.1:g.44559T>C , LRG_242:g.44559T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*110T>C | ENSP00000498114.1:n.*110T>C | |
| ENST00000648994.2:c.402T>C MANE Select | ENSP00000497351.1:p.Cys134= | |
| ENST00000650388.1:c.168-2261T>C | ENSP00000498081.1:n.168-2261T>C | |
| ENST00000674788.1:n.527T>C | ||
| ENST00000568107.2:c.402T>C | ENSP00000476795.1:p.Cys134= | |
| NM_022041.3:c.402T>C , LRG_242t1:c.402T>C | NP_071324.1:p.Cys134= | |
| XM_017023734.1:c.-238T>C | XP_016879223.1:n.-238T>C | |
| NM_001377486.1:c.-238T>C | NP_001364415.1:n.-238T>C | |
| NM_022041.4:c.402T>C MANE Select | NP_071324.1:p.Cys134= |