Linked Data
ClinVar Variation Id:
203455
ClinVar RCV Id:
RCV000185610
dbSNP Id:
rs794729669
PubMed:
PMID:23463024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44350341G>C , CM000679.2:g.44350341G>C | GRCh38 |
| NC_000017.10:g.42427709G>C , CM000679.1:g.42427709G>C | GRCh37 |
| NC_000017.9:g.39783235G>C | NCBI36 |
| NG_007886.1:g.10219G>C , LRG_661:g.10219G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.462+1G>C MANE Select | ENSP00000053867.2:n.462+1G>C | |
| ENST00000639447.1:c.462+1G>C | ENSP00000492014.1:n.462+1G>C | |
| ENST00000053867.7:c.462+1G>C | ENSP00000053867.2:n.462+1G>C | |
| ENST00000586782.5:c.462+1G>C | ENSP00000468318.1:n.462+1G>C | |
| ENST00000587387.5:c.504+1G>C | ENSP00000467431.1:n.504+1G>C | |
| ENST00000588143.5:c.462+1G>C | ENSP00000465375.1:n.462+1G>C | |
| ENST00000588237.5:c.265-101G>C | ENSP00000466611.1:n.265-101G>C | |
| ENST00000589265.5:c.462+1G>C | ENSP00000467616.1:n.462+1G>C | |
| ENST00000590984.1:n.52+1G>C | ||
| NM_002087.3:c.462+1G>C | NP_002078.1:n.462+1G>C | |
| XM_005257253.1:c.462+1G>C | XP_005257310.1:n.462+1G>C | |
| XM_024450730.1:c.462+1G>C | XP_024306498.1:n.462+1G>C | |
| NM_002087.4:c.462+1G>C MANE Select | NP_002078.1:n.462+1G>C |