Linked Data
dbSNP Id:
rs771304920
ExAC:
11:47256779 G / A
gnomAD v2:
11-47256779-G-A
gnomAD v4:
11-47235228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47235228G>A , CM000673.2:g.47235228G>A | GRCh38 |
| NC_000011.9:g.47256779G>A , CM000673.1:g.47256779G>A | GRCh37 |
| NC_000011.8:g.47213355G>A | NCBI36 |
| NG_009365.1:g.25287G>A , LRG_467:g.25287G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.881-42G>A MANE Select | ENSP00000256996.4:n.881-42G>A | |
| ENST00000256996.8:c.881-42G>A | ENSP00000256996.3:n.881-42G>A | |
| ENST00000378600.7:c.457-2609G>A | ENSP00000367863.3:n.457-2609G>A | |
| ENST00000378601.7:c.703-42G>A | ENSP00000367864.3:n.703-42G>A | |
| ENST00000378603.7:c.689-42G>A | ENSP00000367866.3:n.689-42G>A | |
| ENST00000612309.4:n.2288G>A | ||
| ENST00000614394.1:n.271-42G>A | ||
| ENST00000616278.4:c.557-42G>A | ENSP00000478411.1:n.557-42G>A | |
| ENST00000617022.4:n.1554-2609G>A | ||
| ENST00000617847.4:c.810-42G>A | ||
| ENST00000620515.1:n.47-42G>A | ||
| NM_000107.2:c.881-42G>A , LRG_467t1:c.881-42G>A | NP_000098.1:n.881-42G>A | |
| NM_001300734.1:c.457-2609G>A | NP_001287663.1:n.457-2609G>A | |
| XR_242780.3:n.871-42G>A | ||
| XR_242780.4:n.871-42G>A | ||
| NM_000107.3:c.881-42G>A MANE Select | NP_000098.1:n.881-42G>A | |
| NM_001300734.2:c.457-2609G>A | NP_001287663.1:n.457-2609G>A | |
| NM_001399874.1:c.881-42G>A | NP_001386803.1:n.881-42G>A | |
| NM_001399875.1:c.881-42G>A | NP_001386804.1:n.881-42G>A | |
| NM_001399876.1:c.457-2609G>A | NP_001386805.1:n.457-2609G>A | |
| NM_001399878.1:c.689-42G>A | NP_001386807.1:n.689-42G>A | |
| NR_174610.1:n.1132-42G>A | ||
| NR_174611.1:n.1110-42G>A |