Linked Data
dbSNP Id:
rs752658655
ExAC:
11:47256353 C / T
gnomAD v2:
11-47256353-C-T
gnomAD v4:
11-47234802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234802C>T , CM000673.2:g.47234802C>T | GRCh38 |
| NC_000011.9:g.47256353C>T , CM000673.1:g.47256353C>T | GRCh37 |
| NC_000011.8:g.47212929C>T | NCBI36 |
| NG_009365.1:g.24861C>T , LRG_467:g.24861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.748C>T MANE Select | ENSP00000256996.4:p.Leu250= | |
| ENST00000256996.8:c.748C>T | ENSP00000256996.3:p.Leu250= | |
| ENST00000378600.7:c.457-3035C>T | ENSP00000367863.3:n.457-3035C>T | |
| ENST00000378601.7:c.702+130C>T | ENSP00000367864.3:n.702+130C>T | |
| ENST00000378603.7:c.556C>T | ENSP00000367866.3:p.Leu186= | |
| ENST00000612309.4:n.1862C>T | ||
| ENST00000614394.1:n.138C>T | ||
| ENST00000616278.4:c.556+130C>T | ENSP00000478411.1:n.556+130C>T | |
| ENST00000617022.4:n.1554-3035C>T | ||
| ENST00000617847.4:c.677C>T | ||
| ENST00000620515.1:n.46+130C>T | ||
| NM_000107.2:c.748C>T , LRG_467t1:c.748C>T | NP_000098.1:p.Leu250= | |
| NM_001300734.1:c.457-3035C>T | NP_001287663.1:n.457-3035C>T | |
| XR_242780.3:n.870+130C>T | ||
| XR_242780.4:n.870+130C>T | ||
| NM_000107.3:c.748C>T MANE Select | NP_000098.1:p.Leu250= | |
| NM_001300734.2:c.457-3035C>T | NP_001287663.1:n.457-3035C>T | |
| NM_001399874.1:c.748C>T | NP_001386803.1:p.Leu250= | |
| NM_001399875.1:c.748C>T | NP_001386804.1:p.Leu250= | |
| NM_001399876.1:c.457-3035C>T | NP_001386805.1:n.457-3035C>T | |
| NM_001399878.1:c.556C>T | NP_001386807.1:p.Leu186= | |
| NR_174610.1:n.1131+130C>T | ||
| NR_174611.1:n.1035C>T |