Linked Data
ClinVar Variation Id:
5037
ClinVar RCV Id:
RCV000005340
dbSNP Id:
rs119485094
gnomAD v4:
16-81365405-C-T
PubMed:
PMID:19231187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365405C>T , CM000678.2:g.81365405C>T | GRCh38 |
| NC_000016.9:g.81399010C>T , CM000678.1:g.81399010C>T | GRCh37 |
| NC_000016.8:g.79956511C>T | NCBI36 |
| NG_009007.1:g.55440C>T , LRG_242:g.55440C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648349.2:c.*1137C>T | ENSP00000498114.1:n.*1137C>T | |
| ENST00000648994.2:c.1429C>T MANE Select | ENSP00000497351.1:p.Arg477Ter | |
| ENST00000650388.1:c.963C>T | ENSP00000498081.1:n.963C>T | |
| ENST00000568107.2:c.1429C>T | ENSP00000476795.1:p.Arg477Ter | |
| NM_022041.3:c.1429C>T , LRG_242t1:c.1429C>T | NP_071324.1:p.Arg477Ter | |
| XM_017023734.1:c.790C>T | XP_016879223.1:p.Arg264Ter | |
| NM_001377486.1:c.790C>T | NP_001364415.1:p.Arg264Ter | |
| NM_022041.4:c.1429C>T MANE Select | NP_071324.1:p.Arg477Ter |