Linked Data
ClinVar Variation Id:
1089652
ClinVar RCV Id:
RCV001408520
dbSNP Id:
rs1457422538
gnomAD v2:
X-107807135-A-G
gnomAD v4:
X-108563905-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108563905A>G , CM000685.2:g.108563905A>G | GRCh38 |
| NC_000023.10:g.107807135A>G , CM000685.1:g.107807135A>G | GRCh37 |
| NC_000023.9:g.107693791A>G | NCBI36 |
| NG_011977.1:g.128982A>G | |
| NG_011977.2:g.128982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.255A>G MANE Select | ENSP00000331902.7:p.Pro85= | |
| ENST00000361603.7:c.255A>G | ENSP00000354505.2:p.Pro85= | |
| ENST00000328300.10:c.255A>G | ENSP00000331902.6:p.Pro85= | |
| ENST00000361603.6:c.255A>G | ENSP00000354505.2:p.Pro85= | |
| ENST00000470339.1:n.439A>G | ||
| NM_000495.4:c.255A>G | NP_000486.1:p.Pro85= | |
| NM_033380.2:c.255A>G | NP_203699.1:p.Pro85= | |
| XM_005262070.2:c.255A>G | XP_005262127.1:p.Pro85= | |
| XM_005262072.3:c.255A>G | XP_005262129.1:p.Pro85= | |
| XM_006724616.2:c.255A>G | XP_006724679.1:p.Pro85= | |
| XM_011530849.1:c.-70A>G | XP_011529151.1:n.-70A>G | |
| XM_011530850.1:c.255A>G | XP_011529152.1:p.Pro85= | |
| XM_011530849.2:c.270A>G | XP_011529151.2:p.Pro90= | |
| XM_017029259.2:c.270A>G | XP_016884748.1:p.Pro90= | |
| XM_017029260.1:c.270A>G | XP_016884749.1:p.Pro90= | |
| XM_017029261.1:c.270A>G | XP_016884750.1:p.Pro90= | |
| XM_017029262.2:c.270A>G | XP_016884751.1:p.Pro90= | |
| NM_000495.5:c.255A>G | NP_000486.1:p.Pro85= | |
| NM_033380.3:c.255A>G MANE Select | NP_203699.1:p.Pro85= |