Linked Data
dbSNP Id:
rs1887994
gnomAD v2:
14-64760611-C-A
gnomAD v3:
14-64293893-C-A
gnomAD v4:
14-64293893-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64293893C>A , CM000676.2:g.64293893C>A | GRCh38 |
| NC_000014.8:g.64760611C>A , CM000676.1:g.64760611C>A | GRCh37 |
| NC_000014.7:g.63830364C>A | NCBI36 |
| NG_011535.1:g.49658G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341099.6:c.-91+140G>T MANE Select | ENSP00000343925.4:n.-91+140G>T | |
| ENST00000341099.5:c.-91+140G>T | ENSP00000343925.4:n.-91+140G>T | |
| ENST00000353772.7:c.-91+140G>T | ENSP00000335551.4:n.-91+140G>T | |
| ENST00000358599.9:c.-90-10818G>T | ENSP00000351412.5:n.-90-10818G>T | |
| ENST00000554572.5:c.-91+3640G>T | ENSP00000450699.1:n.-91+3640G>T | |
| ENST00000556275.5:c.-91+140G>T | ENSP00000452485.2:n.-91+140G>T | |
| NM_001040275.1:c.-91+140G>T | NP_001035365.1:n.-91+140G>T | |
| NM_001291712.1:c.-91+3640G>T | NP_001278641.1:n.-91+3640G>T | |
| NM_001291723.1:c.-90-10818G>T | NP_001278652.1:n.-90-10818G>T | |
| NM_001437.2:c.-91+140G>T | NP_001428.1:n.-91+140G>T | |
| NR_073496.1:n.654-10818G>T | ||
| XM_011536545.1:c.-91+140G>T | XP_011534847.1:n.-91+140G>T | |
| XM_011536546.1:c.-91+7475G>T | XP_011534848.1:n.-91+7475G>T | |
| XM_017021079.1:c.-90-10818G>T | XP_016876568.1:n.-90-10818G>T | |
| XM_017021080.1:c.-90-10818G>T | XP_016876569.1:n.-90-10818G>T | |
| XM_017021081.1:c.-90-10818G>T | XP_016876570.1:n.-90-10818G>T | |
| XM_017021082.1:c.-90-10818G>T | XP_016876571.1:n.-90-10818G>T | |
| XM_017021083.1:c.-90-10818G>T | XP_016876572.1:n.-90-10818G>T | |
| XM_017021084.1:c.-90-10818G>T | XP_016876573.1:n.-90-10818G>T | |
| XR_001750187.1:n.485+140G>T | ||
| NM_001291712.2:c.-91+3640G>T | NP_001278641.1:n.-91+3640G>T | |
| NR_073496.2:n.717-10818G>T | ||
| NM_001437.3:c.-91+140G>T MANE Select | NP_001428.1:n.-91+140G>T |