Linked Data
ClinVar Variation Id:
2885207
ClinVar RCV Id:
RCV003602872
dbSNP Id:
rs775182990
ExAC:
17:70119753 T / C
gnomAD v2:
17-70119753-T-C
gnomAD v3:
17-72123612-T-C
gnomAD v4:
17-72123612-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123612T>C , CM000679.2:g.72123612T>C | GRCh38 |
| NC_000017.10:g.70119753T>C , CM000679.1:g.70119753T>C | GRCh37 |
| NC_000017.9:g.67631348T>C | NCBI36 |
| NG_012490.1:g.7593T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.755T>C MANE Select | ENSP00000245479.2:p.Leu252Pro | |
| ENST00000245479.2:c.755T>C | ENSP00000245479.2:p.Leu252Pro | |
| NM_000346.3:c.755T>C | NP_000337.1:p.Leu252Pro | |
| NM_000346.4:c.755T>C MANE Select | NP_000337.1:p.Leu252Pro |