Linked Data
ClinVar Variation Id:
56075
ClinVar RCV Id:
RCV000049484
dbSNP Id:
rs386833556
ExAC:
9:6553457 G / A
gnomAD v2:
9-6553457-G-A
gnomAD v3:
9-6553457-G-A
gnomAD v4:
9-6553457-G-A
COSMIC:
COSM5035396
PubMed:
PMID:15192636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6553457G>A , CM000671.2:g.6553457G>A | GRCh38 |
| NC_000009.11:g.6553457G>A , CM000671.1:g.6553457G>A | GRCh37 |
| NC_000009.10:g.6543457G>A | NCBI36 |
| NG_016397.1:g.97236C>T , LRG_643:g.97236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2368C>T MANE Select | ENSP00000370737.4:p.Arg790Trp | |
| ENST00000638233.1:n.803C>T | ||
| ENST00000638661.1:c.568C>T | ENSP00000491369.1:p.Arg190Trp | |
| ENST00000638694.1:n.555C>T | ||
| ENST00000639318.1:c.568C>T | ENSP00000491932.1:p.Arg190Trp | |
| ENST00000639364.1:n.2068C>T | ||
| ENST00000639443.1:n.1936C>T | ||
| ENST00000639639.1:c.70C>T | ENSP00000491312.1:p.Arg24Trp | |
| ENST00000639954.1:n.2076C>T | ||
| ENST00000640505.1:n.607C>T | ||
| ENST00000321612.6:c.2368C>T | ENSP00000370737.3:p.Arg790Trp | |
| ENST00000467946.1:n.294C>T | ||
| NM_000170.2:c.2368C>T , LRG_643t1:c.2368C>T | NP_000161.2:p.Arg790Trp | |
| NM_000170.3:c.2368C>T MANE Select | NP_000161.2:p.Arg790Trp |