Linked Data
dbSNP Id:
rs7144383
gnomAD v2:
14-48040375-G-A
gnomAD v3:
14-47571172-G-A
gnomAD v4:
14-47571172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.47571172G>A , CM000676.2:g.47571172G>A | GRCh38 |
| NC_000014.8:g.48040375G>A , CM000676.1:g.48040375G>A | GRCh37 |
| NC_000014.7:g.47110125G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399232.8:c.280+103345C>T MANE Select | ENSP00000382178.4:n.280+103345C>T | |
| ENST00000399232.6:c.73+103345C>T | ENSP00000382178.3:n.73+103345C>T | |
| ENST00000557238.5:c.-615+55167C>T | ENSP00000452593.1:n.-615+55167C>T | |
| NM_001113498.2:c.73+103345C>T | NP_001106970.3:n.73+103345C>T | |
| XM_011536520.1:c.280+103345C>T | XP_011534822.1:n.280+103345C>T | |
| XM_011536521.1:c.280+103345C>T | XP_011534823.1:n.280+103345C>T | |
| XM_011536522.1:c.280+103345C>T | XP_011534824.1:n.280+103345C>T | |
| XM_011536523.1:c.280+103345C>T | XP_011534825.1:n.280+103345C>T | |
| XM_011536522.3:c.280+103345C>T | XP_011534824.1:n.280+103345C>T | |
| XM_017021061.2:c.280+103345C>T | XP_016876550.1:n.280+103345C>T | |
| XR_001750175.2:n.800+103345C>T | ||
| NM_001113498.3:c.280+103345C>T MANE Select | NP_001106970.4:n.280+103345C>T |