Linked Data
ClinVar Variation Id:
304871
dbSNP Id:
rs373579793
gnomAD v2:
11-46898387-G-A
gnomAD v3:
11-46876836-G-A
gnomAD v4:
11-46876836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46876836G>A , CM000673.2:g.46876836G>A | GRCh38 |
| NC_000011.9:g.46898387G>A , CM000673.1:g.46898387G>A | GRCh37 |
| NC_000011.8:g.46854963G>A | NCBI36 |
| NG_021394.1:g.46787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3278-6C>T MANE Select | ENSP00000367888.1:n.3278-6C>T | |
| ENST00000378623.5:c.3278-6C>T | ENSP00000367888.1:n.3278-6C>T | |
| NM_002334.3:c.3278-6C>T | NP_002325.2:n.3278-6C>T | |
| XM_011520102.1:c.3491-6C>T | XP_011518404.1:n.3491-6C>T | |
| XM_011520103.1:c.2474-6C>T | XP_011518405.1:n.2474-6C>T | |
| XM_011520104.1:c.1043-6C>T | XP_011518406.1:n.1043-6C>T | |
| XM_011520103.2:c.2474-6C>T | XP_011518405.1:n.2474-6C>T | |
| XM_011520104.2:c.1043-6C>T | XP_011518406.1:n.1043-6C>T | |
| XM_017017734.1:c.3278-6C>T | XP_016873223.1:n.3278-6C>T | |
| NM_002334.4:c.3278-6C>T MANE Select | NP_002325.2:n.3278-6C>T |