Linked Data
dbSNP Id:
rs201259165
ExAC:
11:47256398 C / A
gnomAD v2:
11-47256398-C-A
gnomAD v3:
11-47234847-C-A
gnomAD v4:
11-47234847-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234847C>A , CM000673.2:g.47234847C>A | GRCh38 |
| NC_000011.9:g.47256398C>A , CM000673.1:g.47256398C>A | GRCh37 |
| NC_000011.8:g.47212974C>A | NCBI36 |
| NG_009365.1:g.24906C>A , LRG_467:g.24906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.793C>A MANE Select | ENSP00000256996.4:p.Gln265Lys | |
| ENST00000256996.8:c.793C>A | ENSP00000256996.3:p.Gln265Lys | |
| ENST00000378600.7:c.457-2990C>A | ENSP00000367863.3:n.457-2990C>A | |
| ENST00000378601.7:c.702+175C>A | ENSP00000367864.3:n.702+175C>A | |
| ENST00000378603.7:c.601C>A | ENSP00000367866.3:p.Gln201Lys | |
| ENST00000612309.4:n.1907C>A | ||
| ENST00000614394.1:n.183C>A | ||
| ENST00000616278.4:c.556+175C>A | ENSP00000478411.1:n.556+175C>A | |
| ENST00000617022.4:n.1554-2990C>A | ||
| ENST00000617847.4:c.722C>A | ||
| ENST00000620515.1:n.46+175C>A | ||
| NM_000107.2:c.793C>A , LRG_467t1:c.793C>A | NP_000098.1:p.Gln265Lys | |
| NM_001300734.1:c.457-2990C>A | NP_001287663.1:n.457-2990C>A | |
| XR_242780.3:n.870+175C>A | ||
| XR_242780.4:n.870+175C>A | ||
| NM_000107.3:c.793C>A MANE Select | NP_000098.1:p.Gln265Lys | |
| NM_001300734.2:c.457-2990C>A | NP_001287663.1:n.457-2990C>A | |
| NM_001399874.1:c.793C>A | NP_001386803.1:p.Gln265Lys | |
| NM_001399875.1:c.793C>A | NP_001386804.1:p.Gln265Lys | |
| NM_001399876.1:c.457-2990C>A | NP_001386805.1:n.457-2990C>A | |
| NM_001399878.1:c.601C>A | NP_001386807.1:p.Gln201Lys | |
| NR_174610.1:n.1131+175C>A | ||
| NR_174611.1:n.1080C>A |