Linked Data
ClinVar Variation Id:
323551
ClinVar RCV Id:
RCV000356733
dbSNP Id:
rs5912
ExAC:
17:42457120 C / T
gnomAD v2:
17-42457120-C-T
gnomAD v3:
17-44379752-C-T
gnomAD v4:
17-44379752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379752C>T , CM000679.2:g.44379752C>T | GRCh38 |
| NC_000017.10:g.42457120C>T , CM000679.1:g.42457120C>T | GRCh37 |
| NC_000017.9:g.39812646C>T | NCBI36 |
| NG_008331.1:g.14754G>A , LRG_479:g.14754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1815G>A MANE Select | ENSP00000262407.5:p.Pro605= | |
| ENST00000648408.1:c.1246G>A | ||
| ENST00000262407.5:c.1815G>A | ENSP00000262407.5:p.Pro605= | |
| ENST00000592462.5:n.610G>A | ||
| NM_000419.3:c.1815G>A , LRG_479t1:c.1815G>A | NP_000410.2:p.Pro605= | |
| XM_011524749.1:c.1815G>A | XP_011523051.1:p.Pro605= | |
| XM_011524750.1:c.1815G>A | XP_011523052.1:p.Pro605= | |
| NM_000419.4:c.1815G>A | NP_000410.2:p.Pro605= | |
| NM_000419.5:c.1815G>A MANE Select | NP_000410.2:p.Pro605= |