Linked Data
ClinVar Variation Id:
348776
ClinVar RCV Id:
RCV000307478
dbSNP Id:
rs886059408
gnomAD v2:
4-41270215-C-T
gnomAD v3:
4-41268198-C-T
gnomAD v4:
4-41268198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41268198C>T , CM000666.2:g.41268198C>T | GRCh38 |
| NC_000004.11:g.41270215C>T , CM000666.1:g.41270215C>T | GRCh37 |
| NC_000004.10:g.40964972C>T | NCBI36 |
| NG_012931.1:g.16318C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284440.9:c.*125C>T MANE Select | ENSP00000284440.4:n.*125C>T | |
| ENST00000284440.8:c.*125C>T | ENSP00000284440.4:n.*125C>T | |
| ENST00000381760.8:n.1348C>T | ||
| ENST00000472501.5:n.1321C>T | ||
| ENST00000503431.5:c.*125C>T | ENSP00000422542.1:n.*125C>T | |
| ENST00000508768.5:c.*125C>T | ENSP00000426895.1:n.*125C>T | |
| ENST00000512419.5:c.*586C>T | ENSP00000425714.1:n.*586C>T | |
| ENST00000514764.5:n.631C>T | ||
| NM_004181.4:c.*125C>T | NP_004172.2:n.*125C>T | |
| NM_004181.5:c.*125C>T MANE Select | NP_004172.2:n.*125C>T |