Linked Data
ClinVar Variation Id:
138877
dbSNP Id:
rs45478491
ExAC:
17:33428058 G / A
gnomAD v2:
17-33428058-G-A
gnomAD v3:
17-35101039-G-A
gnomAD v4:
17-35101039-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101039G>A , CM000679.2:g.35101039G>A | GRCh38 |
| NC_000017.10:g.33428058G>A , CM000679.1:g.33428058G>A | GRCh37 |
| NC_000017.9:g.30452171G>A | NCBI36 |
| NG_031858.1:g.23831C>T , LRG_516:g.23831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.769-3C>T | ENSP00000468273.3:n.769-3C>T | |
| ENST00000587405.6:c.547-3C>T | ENSP00000466478.2:n.547-3C>T | |
| ENST00000590016.6:c.964-3C>T | ENSP00000466399.1:n.964-3C>T | |
| ENST00000592577.6:c.547-3C>T | ENSP00000466839.2:n.547-3C>T | |
| ENST00000345365.11:c.904-3C>T MANE Select | ENSP00000338790.6:n.904-3C>T | |
| ENST00000335858.11:c.568-3C>T | ENSP00000338408.6:n.568-3C>T | |
| ENST00000345365.10:c.904-3C>T | ENSP00000338790.6:n.904-3C>T | |
| ENST00000394589.8:c.904-3C>T | ENSP00000378090.4:n.904-3C>T | |
| ENST00000460118.6:c.373-3C>T | ENSP00000464356.2:n.373-3C>T | |
| ENST00000586044.5:c.*635-3C>T | ENSP00000465584.1:n.*635-3C>T | |
| ENST00000586210.5:c.*498-3C>T | ENSP00000465612.1:n.*498-3C>T | |
| ENST00000587977.5:c.*644-3C>T | ENSP00000466587.1:n.*644-3C>T | |
| ENST00000588372.5:c.*387-3C>T | ENSP00000468764.1:n.*387-3C>T | |
| ENST00000588594.5:c.*500-3C>T | ENSP00000465366.1:n.*500-3C>T | |
| ENST00000590016.5:c.964-3C>T | ENSP00000466399.1:n.964-3C>T | |
| ENST00000591723.5:c.372+162C>T | ENSP00000467986.1:n.372+162C>T | |
| ENST00000592181.1:c.546+162C>T | ENSP00000464799.1:n.546+162C>T | |
| ENST00000593039.5:c.426+162C>T | ENSP00000466834.1:n.426+162C>T | |
| NM_001142571.1:c.964-3C>T | NP_001136043.1:n.964-3C>T | |
| NM_002878.3:c.904-3C>T , LRG_516t1:c.904-3C>T | NP_002869.3:n.904-3C>T | |
| NM_133629.2:c.568-3C>T | NP_598332.1:n.568-3C>T | |
| NR_037711.1:n.1041-3C>T | ||
| NR_037712.1:n.906-3C>T | ||
| NR_037714.1:n.655+162C>T | ||
| NM_001142571.2:c.964-3C>T | NP_001136043.1:n.964-3C>T | |
| NM_133629.3:c.568-3C>T | NP_598332.1:n.568-3C>T | |
| NR_037711.2:n.930-3C>T | ||
| NR_037712.2:n.795-3C>T | ||
| NM_002878.4:c.904-3C>T MANE Select | NP_002869.3:n.904-3C>T |