Linked Data
dbSNP Id:
rs10134944
gnomAD v2:
14-58119196-C-T
gnomAD v3:
14-57652478-C-T
gnomAD v4:
14-57652478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.57652478C>T , CM000676.2:g.57652478C>T | GRCh38 |
| NC_000014.8:g.58119196C>T , CM000676.1:g.58119196C>T | GRCh37 |
| NC_000014.7:g.57188949C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556826.6:c.104-58354G>A MANE Select | ENSP00000452086.1:n.104-58354G>A | |
| ENST00000556568.1:n.283-48223G>A | ||
| ENST00000556826.5:c.104-58354G>A | ENSP00000452086.1:n.104-58354G>A | |
| ENST00000557430.1:n.97-48223G>A | ||
| NM_001206920.1:c.104-58354G>A | NP_001193849.1:n.104-58354G>A | |
| NM_001306087.1:c.104-58354G>A | NP_001293016.1:n.104-58354G>A | |
| XM_011536723.1:c.65-58354G>A | XP_011535025.1:n.65-58354G>A | |
| XM_011536724.1:c.50-58354G>A | XP_011535026.1:n.50-58354G>A | |
| XM_011536726.1:c.-263-58354G>A | XP_011535028.1:n.-263-58354G>A | |
| XM_011536729.1:c.-263-58354G>A | XP_011535031.1:n.-263-58354G>A | |
| XM_011536731.1:c.-266-58354G>A | XP_011535033.1:n.-266-58354G>A | |
| NM_001352011.1:c.104-58354G>A | NP_001338940.1:n.104-58354G>A | |
| NM_001352012.1:c.41-58354G>A | NP_001338941.1:n.41-58354G>A | |
| NM_001352013.1:c.-918-58354G>A | NP_001338942.1:n.-918-58354G>A | |
| NM_001352014.1:c.-607-48223G>A | NP_001338943.1:n.-607-48223G>A | |
| NM_001352015.2:c.95-58354G>A | NP_001338944.1:n.95-58354G>A | |
| NM_001352016.2:c.95-58354G>A | NP_001338945.1:n.95-58354G>A | |
| NR_159373.1:n.324+48164G>A | ||
| NR_159374.1:n.230-58354G>A | ||
| NR_159375.1:n.230-58354G>A | ||
| NR_159376.1:n.230-58354G>A | ||
| XM_011536723.3:c.65-58354G>A | XP_011535025.1:n.65-58354G>A | |
| XM_011536724.3:c.50-58354G>A | XP_011535026.1:n.50-58354G>A | |
| XM_017021261.1:c.104-58354G>A | XP_016876750.1:n.104-58354G>A | |
| NM_001306087.2:c.104-58354G>A MANE Select | NP_001293016.1:n.104-58354G>A | |
| NM_001352011.2:c.104-58354G>A | NP_001338940.1:n.104-58354G>A | |
| NM_001206920.2:c.104-58354G>A | NP_001193849.1:n.104-58354G>A | |
| NM_001352012.2:c.41-58354G>A | NP_001338941.1:n.41-58354G>A | |
| NM_001352013.2:c.-918-58354G>A | NP_001338942.1:n.-918-58354G>A | |
| NM_001352014.2:c.-607-48223G>A | NP_001338943.1:n.-607-48223G>A | |
| NM_001352015.3:c.95-58354G>A | NP_001338944.1:n.95-58354G>A | |
| NR_159373.2:n.324+48164G>A | ||
| NR_159374.2:n.230-58354G>A | ||
| NR_159375.2:n.230-58354G>A | ||
| NR_159376.2:n.230-58354G>A |