Linked Data
ClinVar Variation Id:
289445
dbSNP Id:
rs369385261
ExAC:
17:48252608 G / A
gnomAD v2:
17-48252608-G-A
gnomAD v3:
17-50175247-G-A
gnomAD v4:
17-50175247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50175247G>A , CM000679.2:g.50175247G>A | GRCh38 |
| NC_000017.10:g.48252608G>A , CM000679.1:g.48252608G>A | GRCh37 |
| NC_000017.9:g.45607607G>A | NCBI36 |
| NG_008889.1:g.14243G>A , LRG_203:g.14243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504307.3:n.547-3070C>T (H1-9P) | ||
| ENST00000504073.2:c.834-10G>A (SGCA) | ENSP00000422030.2:n.834-10G>A | |
| ENST00000504307.2:n.492-3070C>T (H1-9P) | ||
| ENST00000511303.6:n.337-10G>A (SGCA) | ||
| ENST00000512526.2:c.603-10G>A (SGCA) | ENSP00000426606.2:n.603-10G>A | |
| ENST00000682109.1:c.864-10G>A (SGCA) | ENSP00000508041.1:n.864-10G>A | |
| ENST00000683226.1:n.1582-10G>A (SGCA) | ||
| ENST00000683294.1:c.*87-10G>A (SGCA) | ENSP00000508134.1:n.*87-10G>A | |
| ENST00000683544.1:n.638-10G>A (SGCA) | ||
| ENST00000262018.8:c.984-10G>A (SGCA) MANE Select | ENSP00000262018.3:n.984-10G>A | |
| ENST00000262018.7:c.984-10G>A (SGCA) | ENSP00000262018.3:n.984-10G>A | |
| ENST00000344627.10:c.612-10G>A (SGCA) | ENSP00000345522.6:n.612-10G>A | |
| ENST00000504073.1:c.301-10G>A (SGCA) | ||
| ENST00000504307.1:n.470-3070C>T (H1-9P) | ||
| ENST00000505964.1:n.75G>A (SGCA) | ||
| ENST00000508382.1:n.29-10G>A (SGCA) | ||
| ENST00000511303.5:c.333-10G>A (SGCA) | ENSP00000426104.1:n.333-10G>A | |
| ENST00000512526.1:c.447-10G>A (SGCA) | ||
| ENST00000513821.5:c.775-10G>A (SGCA) | ENSP00000426571.1:n.775-10G>A | |
| ENST00000513942.5:n.403-10G>A (SGCA) | ||
| NM_000023.2:c.984-10G>A , LRG_203t1:c.984-10G>A (SGCA) | NP_000014.1:n.984-10G>A | |
| NM_001135697.1:c.612-10G>A (SGCA) | NP_001129169.1:n.612-10G>A | |
| XM_011525120.1:c.984-10G>A (SGCA) | XP_011523422.1:n.984-10G>A | |
| XM_011525121.1:c.834-10G>A (SGCA) | XP_011523423.1:n.834-10G>A | |
| XM_011525122.1:c.775-10G>A (SGCA) | XP_011523424.1:n.775-10G>A | |
| XM_011525123.1:c.612-10G>A (SGCA) | XP_011523425.1:n.612-10G>A | |
| XM_011525124.1:c.678-10G>A (SGCA) | XP_011523426.1:n.678-10G>A | |
| XR_934517.1:n.841-10G>A (SGCA) | ||
| NM_000023.3:c.984-10G>A (SGCA) | NP_000014.1:n.984-10G>A | |
| NM_001135697.2:c.612-10G>A (SGCA) | NP_001129169.1:n.612-10G>A | |
| NR_135553.1:n.831-10G>A (SGCA) | ||
| XM_011525120.2:c.1146-10G>A (SGCA) | XP_011523422.2:n.1146-10G>A | |
| XM_011525121.2:c.996-10G>A (SGCA) | XP_011523423.2:n.996-10G>A | |
| XM_011525122.2:c.937-10G>A (SGCA) | XP_011523424.2:n.937-10G>A | |
| XM_011525123.2:c.774-10G>A (SGCA) | XP_011523425.2:n.774-10G>A | |
| XM_011525124.2:c.678-10G>A (SGCA) | XP_011523426.1:n.678-10G>A | |
| XM_024450873.1:c.678-10G>A (SGCA) | XP_024306641.1:n.678-10G>A | |
| XR_002958056.1:n.1581-10G>A (SGCA) | ||
| NM_000023.4:c.984-10G>A (SGCA) MANE Select | NP_000014.1:n.984-10G>A | |
| NM_001135697.3:c.612-10G>A (SGCA) | NP_001129169.1:n.612-10G>A | |
| NR_135553.2:n.811-10G>A (SGCA) |