Linked Data
ClinVar Variation Id:
383028
dbSNP Id:
rs187974706
ExAC:
11:111896488 C / A
gnomAD v2:
11-111896488-C-A
gnomAD v3:
11-112025764-C-A
gnomAD v4:
11-112025764-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112025764C>A , CM000673.2:g.112025764C>A | GRCh38 |
| NC_000011.9:g.111896488C>A , CM000673.1:g.111896488C>A | GRCh37 |
| NC_000011.8:g.111401698C>A | NCBI36 |
| NG_013342.1:g.5951C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.279+13C>A | ENSP00000518862.1:n.279+13C>A | |
| ENST00000280346.11:c.279+13C>A MANE Select | ENSP00000280346.7:n.279+13C>A | |
| ENST00000527231.2:n.326+13C>A | ||
| ENST00000531306.2:c.279+13C>A | ENSP00000433432.2:n.279+13C>A | |
| ENST00000679368.1:c.279+13C>A | ENSP00000505314.1:n.279+13C>A | |
| ENST00000679466.1:n.326+13C>A | ||
| ENST00000679614.1:c.24+268C>A | ENSP00000506007.1:n.24+268C>A | |
| ENST00000679815.1:c.279+13C>A | ENSP00000504880.1:n.279+13C>A | |
| ENST00000679829.1:n.326+13C>A | ||
| ENST00000679878.1:c.279+13C>A | ENSP00000505567.1:n.279+13C>A | |
| ENST00000680010.1:c.279+13C>A | ENSP00000505768.1:n.279+13C>A | |
| ENST00000680331.1:c.279+13C>A | ENSP00000506707.1:n.279+13C>A | |
| ENST00000681316.1:c.279+13C>A | ENSP00000506560.1:n.279+13C>A | |
| ENST00000681328.1:c.279+13C>A | ENSP00000506355.1:n.279+13C>A | |
| ENST00000681339.1:c.279+13C>A | ENSP00000506167.1:n.279+13C>A | |
| ENST00000681638.1:c.279+13C>A | ENSP00000506090.1:n.279+13C>A | |
| ENST00000280346.10:c.279+13C>A | ENSP00000280346.6:n.279+13C>A | |
| ENST00000393051.5:c.279+13C>A | ENSP00000376771.1:n.279+13C>A | |
| ENST00000531306.1:c.156+13C>A | ENSP00000433432.1:n.156+13C>A | |
| ENST00000533297.1:c.152+140C>A | ENSP00000435374.1:n.152+140C>A | |
| NM_001931.4:c.279+13C>A | NP_001922.2:n.279+13C>A | |
| XM_011542647.1:c.279+13C>A | XP_011540949.1:n.279+13C>A | |
| XM_011542647.3:c.279+13C>A | XP_011540949.1:n.279+13C>A | |
| NM_001372031.1:c.279+13C>A | NP_001358960.1:n.279+13C>A | |
| NM_001372032.1:c.279+13C>A | NP_001358961.1:n.279+13C>A | |
| NM_001372033.1:c.279+13C>A | NP_001358962.1:n.279+13C>A | |
| NM_001372034.1:c.279+13C>A | NP_001358963.1:n.279+13C>A | |
| NM_001372035.1:c.279+13C>A | NP_001358964.1:n.279+13C>A | |
| NM_001372036.1:c.238+13C>A | NP_001358965.1:n.238+13C>A | |
| NM_001372037.1:c.111+140C>A | NP_001358966.1:n.111+140C>A | |
| NM_001372038.1:c.279+13C>A | NP_001358967.1:n.279+13C>A | |
| NM_001372039.1:c.279+13C>A | NP_001358968.1:n.279+13C>A | |
| NM_001372040.1:c.279+13C>A | NP_001358969.1:n.279+13C>A | |
| NM_001372041.1:c.279+13C>A | NP_001358970.1:n.279+13C>A | |
| NM_001372042.1:c.-188+13C>A | NP_001358971.1:n.-188+13C>A | |
| NM_001931.5:c.279+13C>A MANE Select | NP_001922.2:n.279+13C>A | |
| NR_164072.1:n.344+13C>A |