Linked Data
ClinVar Variation Id:
761441
dbSNP Id:
rs772950054
ExAC:
16:3778766 C / T
gnomAD v2:
16-3778766-C-T
gnomAD v3:
16-3728765-C-T
gnomAD v4:
16-3728765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728765C>T , CM000678.2:g.3728765C>T | GRCh38 |
| NC_000016.9:g.3778766C>T , CM000678.1:g.3778766C>T | GRCh37 |
| NC_000016.8:g.3718767C>T | NCBI36 |
| NG_009873.1:g.156356G>A | |
| NG_009873.2:g.156949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6282G>A MANE Select | ENSP00000262367.5:p.Pro2094= | |
| ENST00000262367.9:c.6282G>A | ENSP00000262367.5:p.Pro2094= | |
| ENST00000382070.7:c.6168G>A | ENSP00000371502.3:p.Pro2056= | |
| NM_001079846.1:c.6168G>A | NP_001073315.1:p.Pro2056= | |
| NM_004380.2:c.6282G>A | NP_004371.2:p.Pro2094= | |
| XM_005255124.3:c.6237G>A | XP_005255181.1:p.Pro2079= | |
| XM_005255125.3:c.5865G>A | XP_005255182.1:p.Pro1955= | |
| XM_006720848.2:c.6021G>A | XP_006720911.1:p.Pro2007= | |
| XM_011522380.1:c.6228G>A | XP_011520682.1:p.Pro2076= | |
| XM_011522381.1:c.5529G>A | XP_011520683.1:p.Pro1843= | |
| XM_005255124.4:c.6237G>A | XP_005255181.1:p.Pro2079= | |
| XM_005255125.4:c.5865G>A | XP_005255182.1:p.Pro1955= | |
| XM_006720848.3:c.6021G>A | XP_006720911.1:p.Pro2007= | |
| XM_011522381.2:c.5529G>A | XP_011520683.1:p.Pro1843= | |
| XM_017022944.1:c.6276G>A | XP_016878433.1:p.Pro2092= | |
| NM_004380.3:c.6282G>A MANE Select | NP_004371.2:p.Pro2094= |