Linked Data
dbSNP Id:
rs26232
gnomAD v2:
5-102596720-C-T
gnomAD v3:
5-103261019-C-T
gnomAD v4:
5-103261019-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.103261019C>T , CM000667.2:g.103261019C>T | GRCh38 |
| NC_000005.9:g.102596720C>T , CM000667.1:g.102596720C>T | GRCh37 |
| NC_000005.8:g.102624619C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319933.7:c.-114+2123C>T MANE Select | ENSP00000326110.2:n.-114+2123C>T | |
| ENST00000319933.6:c.-114+2123C>T | ENSP00000326110.2:n.-114+2123C>T | |
| ENST00000510890.1:c.-114+1228C>T | ENSP00000421270.1:n.-114+1228C>T | |
| ENST00000515669.5:c.-114+1833C>T | ENSP00000422836.1:n.-114+1833C>T | |
| NM_001316968.1:c.-114+1228C>T | NP_001303897.1:n.-114+1228C>T | |
| NM_001316969.1:c.-114+1833C>T | NP_001303898.1:n.-114+1833C>T | |
| NM_033211.2:c.-114+2123C>T | NP_149988.1:n.-114+2123C>T | |
| NM_033211.3:c.-114+2123C>T | NP_149988.1:n.-114+2123C>T | |
| XM_005272125.1:c.-114+1742C>T | XP_005272182.1:n.-114+1742C>T | |
| NM_033211.4:c.-114+2123C>T MANE Select | NP_149988.1:n.-114+2123C>T | |
| NM_001316968.2:c.-114+1228C>T | NP_001303897.1:n.-114+1228C>T | |
| NM_001316969.2:c.-114+1833C>T | NP_001303898.1:n.-114+1833C>T | |
| NM_001377283.1:c.-114+2584C>T | NP_001364212.1:n.-114+2584C>T | |
| NM_001377284.1:c.-24+2123C>T | NP_001364213.1:n.-24+2123C>T | |
| NM_001377285.1:c.-114+1824C>T | NP_001364214.1:n.-114+1824C>T | |
| NM_001377286.1:c.-114+1742C>T | NP_001364215.1:n.-114+1742C>T | |
| NM_001377287.1:c.-114+1003C>T | NP_001364216.1:n.-114+1003C>T |