Linked Data
ClinVar Variation Id:
95045
dbSNP Id:
rs3025684
ExAC:
16:3795363 G / A
gnomAD v2:
16-3795363-G-A
gnomAD v3:
16-3745362-G-A
gnomAD v4:
16-3745362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3745362G>A , CM000678.2:g.3745362G>A | GRCh38 |
| NC_000016.9:g.3795363G>A , CM000678.1:g.3795363G>A | GRCh37 |
| NC_000016.8:g.3735364G>A | NCBI36 |
| NG_009873.1:g.139759C>T | |
| NG_009873.2:g.140352C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.3837-8C>T MANE Select | ENSP00000262367.5:n.3837-8C>T | |
| ENST00000262367.9:c.3837-8C>T | ENSP00000262367.5:n.3837-8C>T | |
| ENST00000382070.7:c.3723-8C>T | ENSP00000371502.3:n.3723-8C>T | |
| ENST00000570939.2:c.2472-8C>T | ENSP00000461002.2:n.2472-8C>T | |
| ENST00000572569.1:n.293C>T | ||
| ENST00000573517.6:c.143-8C>T | ||
| NM_001079846.1:c.3723-8C>T | NP_001073315.1:n.3723-8C>T | |
| NM_004380.2:c.3837-8C>T | NP_004371.2:n.3837-8C>T | |
| XM_005255124.3:c.3792-8C>T | XP_005255181.1:n.3792-8C>T | |
| XM_005255125.3:c.3420-8C>T | XP_005255182.1:n.3420-8C>T | |
| XM_006720848.2:c.3837-8C>T | XP_006720911.1:n.3837-8C>T | |
| XM_011522380.1:c.3783-8C>T | XP_011520682.1:n.3783-8C>T | |
| XM_011522381.1:c.3084-8C>T | XP_011520683.1:n.3084-8C>T | |
| XM_005255124.4:c.3792-8C>T | XP_005255181.1:n.3792-8C>T | |
| XM_005255125.4:c.3420-8C>T | XP_005255182.1:n.3420-8C>T | |
| XM_006720848.3:c.3837-8C>T | XP_006720911.1:n.3837-8C>T | |
| XM_011522381.2:c.3084-8C>T | XP_011520683.1:n.3084-8C>T | |
| XM_017022944.1:c.3831-8C>T | XP_016878433.1:n.3831-8C>T | |
| NM_004380.3:c.3837-8C>T MANE Select | NP_004371.2:n.3837-8C>T |