Linked Data
ClinVar Variation Id:
350870
ClinVar RCV Id:
RCV000390569
dbSNP Id:
rs761942644
ExAC:
5:135382046 C / T
gnomAD v2:
5-135382046-C-T
gnomAD v3:
5-136046357-C-T
gnomAD v4:
5-136046357-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046357C>T , CM000667.2:g.136046357C>T | GRCh38 |
| NC_000005.9:g.135382046C>T , CM000667.1:g.135382046C>T | GRCh37 |
| NC_000005.8:g.135409945C>T | NCBI36 |
| NG_012646.1:g.22463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.321C>T MANE Select | ENSP00000416330.2:p.Tyr107= | |
| ENST00000442011.6:c.321C>T | ENSP00000416330.2:p.Tyr107= | |
| ENST00000504185.5:n.478C>T | ||
| ENST00000506699.5:n.386C>T | ||
| ENST00000507018.5:c.238C>T | ||
| ENST00000515433.1:n.613C>T | ||
| NM_000358.2:c.321C>T | NP_000349.1:p.Tyr107= | |
| NM_000358.3:c.321C>T MANE Select | NP_000349.1:p.Tyr107= |