Linked Data
ClinVar Variation Id:
56082
ClinVar RCV Id:
RCV000049491
dbSNP Id:
rs386833563
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6645244C>T , CM000671.2:g.6645244C>T | GRCh38 |
| NC_000009.11:g.6645244C>T , CM000671.1:g.6645244C>T | GRCh37 |
| NC_000009.10:g.6635244C>T | NCBI36 |
| NG_016397.1:g.5449G>A , LRG_643:g.5449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.255+1G>A MANE Select | ENSP00000370737.4:n.255+1G>A | |
| ENST00000321612.6:c.255+1G>A | ENSP00000370737.3:n.255+1G>A | |
| NM_000170.2:c.255+1G>A , LRG_643t1:c.255+1G>A | NP_000161.2:n.255+1G>A | |
| XM_024447726.1:c.303-48C>T | XP_024303494.1:n.303-48C>T | |
| NM_000170.3:c.255+1G>A MANE Select | NP_000161.2:n.255+1G>A |