Linked Data
ClinVar Variation Id:
5034
ClinVar RCV Id:
RCV000005337
dbSNP Id:
rs119485091
gnomAD v4:
16-81365005-T-C
PubMed:
PMID:11971098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365005T>C , CM000678.2:g.81365005T>C | GRCh38 |
| NC_000016.9:g.81398610T>C , CM000678.1:g.81398610T>C | GRCh37 |
| NC_000016.8:g.79956111T>C | NCBI36 |
| NG_009007.1:g.55040T>C , LRG_242:g.55040T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648349.2:c.*976T>C | ENSP00000498114.1:n.*976T>C | |
| ENST00000648994.2:c.1268T>C MANE Select | ENSP00000497351.1:p.Ile423Thr | |
| ENST00000650388.1:c.802T>C | ENSP00000498081.1:n.802T>C | |
| ENST00000568107.2:c.1268T>C | ENSP00000476795.1:p.Ile423Thr | |
| NM_022041.3:c.1268T>C , LRG_242t1:c.1268T>C | NP_071324.1:p.Ile423Thr | |
| XM_017023734.1:c.629T>C | XP_016879223.1:p.Ile210Thr | |
| NM_001377486.1:c.629T>C | NP_001364415.1:p.Ile210Thr | |
| NM_022041.4:c.1268T>C MANE Select | NP_071324.1:p.Ile423Thr |