Linked Data
dbSNP Id:
rs17118552
gnomAD v2:
14-47874557-A-G
gnomAD v3:
14-47405354-A-G
gnomAD v4:
14-47405354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.47405354A>G , CM000676.2:g.47405354A>G | GRCh38 |
| NC_000014.8:g.47874557A>G , CM000676.1:g.47874557A>G | GRCh37 |
| NC_000014.7:g.46944307A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399232.8:c.281-103804T>C MANE Select | ENSP00000382178.4:n.281-103804T>C | |
| ENST00000399232.6:c.74-103804T>C | ENSP00000382178.3:n.74-103804T>C | |
| ENST00000557238.5:c.-614-103804T>C | ENSP00000452593.1:n.-614-103804T>C | |
| NM_001113498.2:c.74-103804T>C | NP_001106970.3:n.74-103804T>C | |
| XM_011536520.1:c.281-103804T>C | XP_011534822.1:n.281-103804T>C | |
| XM_011536521.1:c.281-103804T>C | XP_011534823.1:n.281-103804T>C | |
| XM_011536522.1:c.281-103804T>C | XP_011534824.1:n.281-103804T>C | |
| XM_011536523.1:c.281-103804T>C | XP_011534825.1:n.281-103804T>C | |
| XM_011536522.3:c.281-103804T>C | XP_011534824.1:n.281-103804T>C | |
| XM_017021061.2:c.281-103804T>C | XP_016876550.1:n.281-103804T>C | |
| XR_001750175.2:n.801-103804T>C | ||
| NM_001113498.3:c.281-103804T>C MANE Select | NP_001106970.4:n.281-103804T>C |