Linked Data
dbSNP Id:
rs1953713231
gnomAD v4:
11-47235474-T-C
MyVariant Identifiers:
chr11:g.47257025T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47235474T>C , CM000673.2:g.47235474T>C | GRCh38 |
| NC_000011.9:g.47257025T>C , CM000673.1:g.47257025T>C | GRCh37 |
| NC_000011.8:g.47213601T>C | NCBI36 |
| NG_009365.1:g.25533T>C , LRG_467:g.25533T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.1023+62T>C MANE Select | ENSP00000256996.4:n.1023+62T>C | |
| ENST00000256996.8:c.1023+62T>C | ENSP00000256996.3:n.1023+62T>C | |
| ENST00000378600.7:c.457-2363T>C | ENSP00000367863.3:n.457-2363T>C | |
| ENST00000378601.7:c.*110+62T>C | ENSP00000367864.3:n.*110+62T>C | |
| ENST00000378603.7:c.831+62T>C | ENSP00000367866.3:n.831+62T>C | |
| ENST00000612309.4:n.2472+62T>C | ||
| ENST00000614394.1:n.475T>C | ||
| ENST00000616278.4:c.699+62T>C | ENSP00000478411.1:n.699+62T>C | |
| ENST00000617022.4:n.1554-2363T>C | ||
| ENST00000617847.4:c.952+62T>C | ||
| ENST00000620515.1:n.189+62T>C | ||
| NM_000107.2:c.1023+62T>C , LRG_467t1:c.1023+62T>C | NP_000098.1:n.1023+62T>C | |
| NM_001300734.1:c.457-2363T>C | NP_001287663.1:n.457-2363T>C | |
| XR_242780.3:n.1013+62T>C | ||
| XR_242780.4:n.1013+62T>C | ||
| NM_000107.3:c.1023+62T>C MANE Select | NP_000098.1:n.1023+62T>C | |
| NM_001300734.2:c.457-2363T>C | NP_001287663.1:n.457-2363T>C | |
| NM_001399874.1:c.1023+62T>C | NP_001386803.1:n.1023+62T>C | |
| NM_001399875.1:c.1023+62T>C | NP_001386804.1:n.1023+62T>C | |
| NM_001399876.1:c.457-2363T>C | NP_001386805.1:n.457-2363T>C | |
| NM_001399878.1:c.831+62T>C | NP_001386807.1:n.831+62T>C | |
| NR_174610.1:n.1274+62T>C | ||
| NR_174611.1:n.1252+62T>C |