Linked Data
ClinVar Variation Id:
2698172
ClinVar RCV Id:
RCV003517911
gnomAD v3:
17-50194553-C-A
gnomAD v4:
17-50194553-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194553C>A , CM000679.2:g.50194553C>A | GRCh38 |
| NC_000017.10:g.48271914C>A , CM000679.1:g.48271914C>A | GRCh37 |
| NC_000017.9:g.45626913C>A | NCBI36 |
| NG_007400.1:g.12087G>T , LRG_1:g.12087G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1515+20G>T MANE Select | ENSP00000225964.6:n.1515+20G>T | |
| ENST00000225964.9:c.1515+20G>T | ENSP00000225964.5:n.1515+20G>T | |
| ENST00000471344.1:n.459+20G>T | ||
| NM_000088.3:c.1515+20G>T , LRG_1t1:c.1515+20G>T | NP_000079.2:n.1515+20G>T | |
| XM_005257058.3:c.1515+20G>T | XP_005257115.2:n.1515+20G>T | |
| XM_005257059.3:c.957+1761G>T | XP_005257116.2:n.957+1761G>T | |
| XM_011524341.1:c.1317+20G>T | XP_011522643.1:n.1317+20G>T | |
| XM_005257058.4:c.1515+20G>T | XP_005257115.2:n.1515+20G>T | |
| XM_005257059.4:c.957+1761G>T | XP_005257116.2:n.957+1761G>T | |
| NM_000088.4:c.1515+20G>T MANE Select | NP_000079.2:n.1515+20G>T |