Linked Data
dbSNP Id:
rs1286083
gnomAD v2:
14-91442779-T-C
gnomAD v3:
14-90976435-T-C
gnomAD v4:
14-90976435-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90976435T>C , CM000676.2:g.90976435T>C | GRCh38 |
| NC_000014.8:g.91442779T>C , CM000676.1:g.91442779T>C | GRCh37 |
| NC_000014.7:g.90512532T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614987.5:c.394+1871A>G MANE Select | ENSP00000479667.1:n.394+1871A>G | |
| ENST00000648062.1:c.394+1871A>G | ENSP00000497354.1:n.394+1871A>G | |
| ENST00000261991.7:c.394+1871A>G | ENSP00000261991.4:n.394+1871A>G | |
| ENST00000418736.6:c.394+1871A>G | ENSP00000402787.2:n.394+1871A>G | |
| ENST00000536315.6:c.157+1871A>G | ENSP00000442803.2:n.157+1871A>G | |
| ENST00000554206.1:c.394+1871A>G | ENSP00000450591.1:n.394+1871A>G | |
| ENST00000556178.5:c.219+1871A>G | ||
| ENST00000614987.4:c.394+1871A>G | ENSP00000479667.1:n.394+1871A>G | |
| NM_004755.2:c.394+1871A>G | NP_004746.2:n.394+1871A>G | |
| NM_182398.1:c.394+1871A>G | NP_872198.1:n.394+1871A>G | |
| NM_001322227.1:c.-470+1871A>G | NP_001309156.1:n.-470+1871A>G | |
| NM_001322228.1:c.394+1871A>G | NP_001309157.1:n.394+1871A>G | |
| NM_001322229.1:c.394+1871A>G | NP_001309158.1:n.394+1871A>G | |
| NM_001322230.1:c.-595+1871A>G | NP_001309159.1:n.-595+1871A>G | |
| NM_001322231.1:c.-220+1871A>G | NP_001309160.1:n.-220+1871A>G | |
| NM_001322232.1:c.175+24653A>G | NP_001309161.1:n.175+24653A>G | |
| NM_001322233.1:c.394+1871A>G | NP_001309162.1:n.394+1871A>G | |
| NM_001322234.1:c.-220+1871A>G | NP_001309163.1:n.-220+1871A>G | |
| NM_001322235.1:c.157+1871A>G | NP_001309164.1:n.157+1871A>G | |
| NM_001322236.1:c.394+1871A>G | NP_001309165.1:n.394+1871A>G | |
| NM_001322237.1:c.157+1871A>G | NP_001309166.1:n.157+1871A>G | |
| NM_001322238.1:c.-263-28885A>G | NP_001309167.1:n.-263-28885A>G | |
| NM_004755.3:c.394+1871A>G | NP_004746.2:n.394+1871A>G | |
| NM_182398.2:c.394+1871A>G | NP_872198.1:n.394+1871A>G | |
| XM_017021786.2:c.-332+1871A>G | XP_016877275.1:n.-332+1871A>G | |
| NM_004755.4:c.394+1871A>G MANE Select | NP_004746.2:n.394+1871A>G | |
| NM_001322227.2:c.-470+1871A>G | NP_001309156.1:n.-470+1871A>G | |
| NM_001322228.2:c.394+1871A>G | NP_001309157.1:n.394+1871A>G | |
| NM_001322229.2:c.394+1871A>G | NP_001309158.1:n.394+1871A>G | |
| NM_001322230.2:c.-595+1871A>G | NP_001309159.1:n.-595+1871A>G | |
| NM_001322231.2:c.-220+1871A>G | NP_001309160.1:n.-220+1871A>G | |
| NM_001322232.2:c.175+24653A>G | NP_001309161.1:n.175+24653A>G | |
| NM_001322233.2:c.394+1871A>G | NP_001309162.1:n.394+1871A>G | |
| NM_001322234.2:c.-220+1871A>G | NP_001309163.1:n.-220+1871A>G | |
| NM_001322235.2:c.157+1871A>G | NP_001309164.1:n.157+1871A>G | |
| NM_001322236.2:c.394+1871A>G | NP_001309165.1:n.394+1871A>G | |
| NM_001322237.2:c.157+1871A>G | NP_001309166.1:n.157+1871A>G | |
| NM_001322238.2:c.-263-28885A>G | NP_001309167.1:n.-263-28885A>G | |
| NM_182398.3:c.394+1871A>G | NP_872198.1:n.394+1871A>G |