Linked Data
dbSNP Id:
rs11622475
gnomAD v2:
14-104509076-C-T
gnomAD v3:
14-104042739-C-T
gnomAD v4:
14-104042739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104042739C>T , CM000676.2:g.104042739C>T | GRCh38 |
| NC_000014.8:g.104509076C>T , CM000676.1:g.104509076C>T | GRCh37 |
| NC_000014.7:g.103578829C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409874.9:c.3974+552C>T MANE Select | ENSP00000387303.4:n.3974+552C>T | |
| ENST00000339063.6:c.*484+552C>T | ENSP00000343545.6:n.*484+552C>T | |
| ENST00000409874.8:c.3974+552C>T | ENSP00000387303.4:n.3974+552C>T | |
| ENST00000557332.5:c.2580+552C>T | ||
| NM_153046.2:c.3974+552C>T | NP_694591.2:n.3974+552C>T | |
| XM_005267309.2:c.3818+552C>T | XP_005267366.1:n.3818+552C>T | |
| XM_006720019.2:c.3974+552C>T | XP_006720082.1:n.3974+552C>T | |
| XM_006720020.2:c.3893+552C>T | XP_006720083.1:n.3893+552C>T | |
| XM_011536396.1:c.3974+552C>T | XP_011534698.1:n.3974+552C>T | |
| XM_011536397.1:c.3869+552C>T | XP_011534699.1:n.3869+552C>T | |
| XM_011536398.1:c.3860+552C>T | XP_011534700.1:n.3860+552C>T | |
| XM_011536399.1:c.3776+552C>T | XP_011534701.1:n.3776+552C>T | |
| XM_011536400.1:c.3713+552C>T | XP_011534702.1:n.3713+552C>T | |
| XM_011536401.1:c.3287+552C>T | XP_011534703.1:n.3287+552C>T | |
| XM_011536402.1:c.2888+552C>T | XP_011534704.1:n.2888+552C>T | |
| XM_005267309.4:c.3818+552C>T | XP_005267366.1:n.3818+552C>T | |
| XM_006720019.3:c.3974+552C>T | XP_006720082.1:n.3974+552C>T | |
| XM_006720020.3:c.3893+552C>T | XP_006720083.1:n.3893+552C>T | |
| XM_011536397.2:c.3869+552C>T | XP_011534699.1:n.3869+552C>T | |
| XM_011536398.3:c.3860+552C>T | XP_011534700.1:n.3860+552C>T | |
| XM_011536400.2:c.3713+552C>T | XP_011534702.1:n.3713+552C>T | |
| XM_011536401.3:c.3287+552C>T | XP_011534703.1:n.3287+552C>T | |
| XM_011536402.2:c.2888+552C>T | XP_011534704.1:n.2888+552C>T | |
| XM_017020955.2:c.2732+552C>T | XP_016876444.1:n.2732+552C>T | |
| NM_153046.3:c.3974+552C>T MANE Select | NP_694591.2:n.3974+552C>T |