Linked Data
ClinVar Variation Id:
95066
dbSNP Id:
rs3751845
ExAC:
16:3778337 G / A
gnomAD v2:
16-3778337-G-A
gnomAD v3:
16-3728336-G-A
gnomAD v4:
16-3728336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728336G>A , CM000678.2:g.3728336G>A | GRCh38 |
| NC_000016.9:g.3778337G>A , CM000678.1:g.3778337G>A | GRCh37 |
| NC_000016.8:g.3718338G>A | NCBI36 |
| NG_009873.1:g.156785C>T | |
| NG_009873.2:g.157378C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.6711C>T MANE Select | ENSP00000262367.5:p.Pro2237= | |
| ENST00000262367.9:c.6711C>T | ENSP00000262367.5:p.Pro2237= | |
| ENST00000382070.7:c.6597C>T | ENSP00000371502.3:p.Pro2199= | |
| NM_001079846.1:c.6597C>T | NP_001073315.1:p.Pro2199= | |
| NM_004380.2:c.6711C>T | NP_004371.2:p.Pro2237= | |
| XM_005255124.3:c.6666C>T | XP_005255181.1:p.Pro2222= | |
| XM_005255125.3:c.6294C>T | XP_005255182.1:p.Pro2098= | |
| XM_006720848.2:c.6450C>T | XP_006720911.1:p.Pro2150= | |
| XM_011522380.1:c.6657C>T | XP_011520682.1:p.Pro2219= | |
| XM_011522381.1:c.5958C>T | XP_011520683.1:p.Pro1986= | |
| XM_005255124.4:c.6666C>T | XP_005255181.1:p.Pro2222= | |
| XM_005255125.4:c.6294C>T | XP_005255182.1:p.Pro2098= | |
| XM_006720848.3:c.6450C>T | XP_006720911.1:p.Pro2150= | |
| XM_011522381.2:c.5958C>T | XP_011520683.1:p.Pro1986= | |
| XM_017022944.1:c.6705C>T | XP_016878433.1:p.Pro2235= | |
| NM_004380.3:c.6711C>T MANE Select | NP_004371.2:p.Pro2237= |