Linked Data
ClinVar Variation Id:
56054
ClinVar RCV Id:
RCV000049463
dbSNP Id:
rs386833535
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558680C>A , CM000671.2:g.6558680C>A | GRCh38 |
| NC_000009.11:g.6558680C>A , CM000671.1:g.6558680C>A | GRCh37 |
| NC_000009.10:g.6548680C>A | NCBI36 |
| NG_016397.1:g.92013G>T , LRG_643:g.92013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1931G>T MANE Select | ENSP00000370737.4:p.Cys644Phe | |
| ENST00000460457.2:n.91G>T | ||
| ENST00000638233.1:n.366G>T | ||
| ENST00000638661.1:c.131G>T | ENSP00000491369.1:p.Cys44Phe | |
| ENST00000638694.1:n.118G>T | ||
| ENST00000639318.1:c.131G>T | ENSP00000491932.1:p.Cys44Phe | |
| ENST00000639364.1:n.1631G>T | ||
| ENST00000639443.1:n.1499G>T | ||
| ENST00000639954.1:n.1639G>T | ||
| ENST00000640208.1:c.131G>T | ENSP00000491895.1:p.Cys44Phe | |
| ENST00000640505.1:n.170G>T | ||
| ENST00000640592.1:n.1814G>T | ||
| ENST00000321612.6:c.1931G>T | ENSP00000370737.3:p.Cys644Phe | |
| ENST00000460457.1:n.70G>T | ||
| NM_000170.2:c.1931G>T , LRG_643t1:c.1931G>T | NP_000161.2:p.Cys644Phe | |
| NM_000170.3:c.1931G>T MANE Select | NP_000161.2:p.Cys644Phe |