Linked Data
dbSNP Id:
rs748644904
ExAC:
11:47256432 G / C
gnomAD v2:
11-47256432-G-C
gnomAD v4:
11-47234881-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234881G>C , CM000673.2:g.47234881G>C | GRCh38 |
| NC_000011.9:g.47256432G>C , CM000673.1:g.47256432G>C | GRCh37 |
| NC_000011.8:g.47213008G>C | NCBI36 |
| NG_009365.1:g.24940G>C , LRG_467:g.24940G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.827G>C MANE Select | ENSP00000256996.4:p.Arg276Thr | |
| ENST00000256996.8:c.827G>C | ENSP00000256996.3:p.Arg276Thr | |
| ENST00000378600.7:c.457-2956G>C | ENSP00000367863.3:n.457-2956G>C | |
| ENST00000378601.7:c.702+209G>C | ENSP00000367864.3:n.702+209G>C | |
| ENST00000378603.7:c.635G>C | ENSP00000367866.3:p.Arg212Thr | |
| ENST00000612309.4:n.1941G>C | ||
| ENST00000614394.1:n.217G>C | ||
| ENST00000616278.4:c.556+209G>C | ENSP00000478411.1:n.556+209G>C | |
| ENST00000617022.4:n.1554-2956G>C | ||
| ENST00000617847.4:c.756G>C | ||
| ENST00000620515.1:n.46+209G>C | ||
| NM_000107.2:c.827G>C , LRG_467t1:c.827G>C | NP_000098.1:p.Arg276Thr | |
| NM_001300734.1:c.457-2956G>C | NP_001287663.1:n.457-2956G>C | |
| XR_242780.3:n.870+209G>C | ||
| XR_242780.4:n.870+209G>C | ||
| NM_000107.3:c.827G>C MANE Select | NP_000098.1:p.Arg276Thr | |
| NM_001300734.2:c.457-2956G>C | NP_001287663.1:n.457-2956G>C | |
| NM_001399874.1:c.827G>C | NP_001386803.1:p.Arg276Thr | |
| NM_001399875.1:c.827G>C | NP_001386804.1:p.Arg276Thr | |
| NM_001399876.1:c.457-2956G>C | NP_001386805.1:n.457-2956G>C | |
| NM_001399878.1:c.635G>C | NP_001386807.1:p.Arg212Thr | |
| NR_174610.1:n.1131+209G>C | ||
| NR_174611.1:n.1109+5G>C |