Linked Data
ClinVar Variation Id:
772272
dbSNP Id:
rs768626011
ExAC:
16:3778994 G / A
gnomAD v2:
16-3778994-G-A
gnomAD v3:
16-3728993-G-A
gnomAD v4:
16-3728993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728993G>A , CM000678.2:g.3728993G>A | GRCh38 |
| NC_000016.9:g.3778994G>A , CM000678.1:g.3778994G>A | GRCh37 |
| NC_000016.8:g.3718995G>A | NCBI36 |
| NG_009873.1:g.156128C>T | |
| NG_009873.2:g.156721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6054C>T MANE Select | ENSP00000262367.5:p.Pro2018= | |
| ENST00000262367.9:c.6054C>T | ENSP00000262367.5:p.Pro2018= | |
| ENST00000382070.7:c.5940C>T | ENSP00000371502.3:p.Pro1980= | |
| NM_001079846.1:c.5940C>T | NP_001073315.1:p.Pro1980= | |
| NM_004380.2:c.6054C>T | NP_004371.2:p.Pro2018= | |
| XM_005255124.3:c.6009C>T | XP_005255181.1:p.Pro2003= | |
| XM_005255125.3:c.5637C>T | XP_005255182.1:p.Pro1879= | |
| XM_006720848.2:c.5793C>T | XP_006720911.1:p.Pro1931= | |
| XM_011522380.1:c.6000C>T | XP_011520682.1:p.Pro2000= | |
| XM_011522381.1:c.5301C>T | XP_011520683.1:p.Pro1767= | |
| XM_005255124.4:c.6009C>T | XP_005255181.1:p.Pro2003= | |
| XM_005255125.4:c.5637C>T | XP_005255182.1:p.Pro1879= | |
| XM_006720848.3:c.5793C>T | XP_006720911.1:p.Pro1931= | |
| XM_011522381.2:c.5301C>T | XP_011520683.1:p.Pro1767= | |
| XM_017022944.1:c.6048C>T | XP_016878433.1:p.Pro2016= | |
| NM_004380.3:c.6054C>T MANE Select | NP_004371.2:p.Pro2018= |