Linked Data
dbSNP Id:
rs17118176
gnomAD v2:
14-47685859-A-G
gnomAD v3:
14-47216656-A-G
gnomAD v4:
14-47216656-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.47216656A>G , CM000676.2:g.47216656A>G | GRCh38 |
| NC_000014.8:g.47685859A>G , CM000676.1:g.47685859A>G | GRCh37 |
| NC_000014.7:g.46755609A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399232.8:c.595+1365T>C MANE Select | ENSP00000382178.4:n.595+1365T>C | |
| ENST00000426342.7:c.-3+1365T>C | ENSP00000405456.4:n.-3+1365T>C | |
| ENST00000357362.7:c.-300+1365T>C | ENSP00000349925.3:n.-300+1365T>C | |
| ENST00000399232.6:c.388+1365T>C | ENSP00000382178.3:n.388+1365T>C | |
| ENST00000426342.5:c.-3+1365T>C | ENSP00000405456.2:n.-3+1365T>C | |
| ENST00000482848.7:c.-300+1365T>C | ENSP00000434991.2:n.-300+1365T>C | |
| ENST00000557238.5:c.-300+1365T>C | ENSP00000452593.1:n.-300+1365T>C | |
| NM_001113498.2:c.388+1365T>C | NP_001106970.3:n.388+1365T>C | |
| NM_182830.4:c.-300+1365T>C | NP_878250.2:n.-300+1365T>C | |
| NR_103766.1:n.459+1365T>C | ||
| XM_011536519.1:c.460+1365T>C | XP_011534821.1:n.460+1365T>C | |
| XM_011536520.1:c.595+1365T>C | XP_011534822.1:n.595+1365T>C | |
| XM_011536521.1:c.595+1365T>C | XP_011534823.1:n.595+1365T>C | |
| XM_011536522.1:c.595+1365T>C | XP_011534824.1:n.595+1365T>C | |
| XM_011536523.1:c.595+1365T>C | XP_011534825.1:n.595+1365T>C | |
| XM_011536519.2:c.460+1365T>C | XP_011534821.1:n.460+1365T>C | |
| XM_011536522.3:c.595+1365T>C | XP_011534824.1:n.595+1365T>C | |
| XM_017021061.2:c.595+1365T>C | XP_016876550.1:n.595+1365T>C | |
| XR_001750175.2:n.1115+1365T>C | ||
| NM_001113498.3:c.595+1365T>C MANE Select | NP_001106970.4:n.595+1365T>C | |
| NR_103766.2:n.459+1365T>C |