Linked Data
ClinVar Variation Id:
323535
ClinVar RCV Id:
RCV000365450
dbSNP Id:
rs765761482
ExAC:
17:42429169 T / C
gnomAD v2:
17-42429169-T-C
gnomAD v4:
17-44351801-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351801T>C , CM000679.2:g.44351801T>C | GRCh38 |
| NC_000017.10:g.42429169T>C , CM000679.1:g.42429169T>C | GRCh37 |
| NC_000017.9:g.39784695T>C | NCBI36 |
| NG_007886.1:g.11679T>C , LRG_661:g.11679T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1179+6T>C MANE Select | ENSP00000053867.2:n.1179+6T>C | |
| ENST00000639447.1:c.1136+49T>C | ENSP00000492014.1:n.1136+49T>C | |
| ENST00000053867.7:c.1179+6T>C | ENSP00000053867.2:n.1179+6T>C | |
| ENST00000586443.1:c.620+6T>C | ||
| ENST00000589265.5:c.708+6T>C | ENSP00000467616.1:n.708+6T>C | |
| NM_002087.3:c.1179+6T>C | NP_002078.1:n.1179+6T>C | |
| XM_005257253.1:c.1179+6T>C | XP_005257310.1:n.1179+6T>C | |
| XM_024450730.1:c.1179+6T>C | XP_024306498.1:n.1179+6T>C | |
| NM_002087.4:c.1179+6T>C MANE Select | NP_002078.1:n.1179+6T>C |