Linked Data
ClinVar Variation Id:
2199548
ClinVar RCV Id:
RCV002624984
dbSNP Id:
rs1321195207
gnomAD v2:
X-107909750-C-G
gnomAD v3:
X-108666520-C-G
gnomAD v4:
X-108666520-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108666520C>G , CM000685.2:g.108666520C>G | GRCh38 |
| NC_000023.10:g.107909750C>G , CM000685.1:g.107909750C>G | GRCh37 |
| NC_000023.9:g.107796406C>G | NCBI36 |
| NG_011977.1:g.231597C>G | |
| NG_011977.2:g.231597C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3479C>G MANE Select | ENSP00000331902.7:p.Pro1160Arg | |
| ENST00000361603.7:c.3479C>G | ENSP00000354505.2:p.Pro1160Arg | |
| ENST00000328300.10:c.3479C>G | ENSP00000331902.6:p.Pro1160Arg | |
| ENST00000361603.6:c.3479C>G | ENSP00000354505.2:p.Pro1160Arg | |
| NM_000495.4:c.3479C>G | NP_000486.1:p.Pro1160Arg | |
| NM_033380.2:c.3479C>G | NP_203699.1:p.Pro1160Arg | |
| XM_005262070.2:c.3479C>G | XP_005262127.1:p.Pro1160Arg | |
| XM_006724616.2:c.3479C>G | XP_006724679.1:p.Pro1160Arg | |
| XM_011530849.1:c.3155C>G | XP_011529151.1:p.Pro1052Arg | |
| XM_011530850.1:c.3479C>G | XP_011529152.1:p.Pro1160Arg | |
| XM_011530851.1:c.1052C>G | XP_011529153.1:p.Pro351Arg | |
| XM_011530849.2:c.3494C>G | XP_011529151.2:p.Pro1165Arg | |
| XM_017029259.2:c.3494C>G | XP_016884748.1:p.Pro1165Arg | |
| XM_017029260.1:c.3494C>G | XP_016884749.1:p.Pro1165Arg | |
| XM_017029261.1:c.3494C>G | XP_016884750.1:p.Pro1165Arg | |
| XM_017029262.2:c.3494C>G | XP_016884751.1:p.Pro1165Arg | |
| XM_017029263.2:c.1814C>G | XP_016884752.1:p.Pro605Arg | |
| NM_000495.5:c.3479C>G | NP_000486.1:p.Pro1160Arg | |
| NM_033380.3:c.3479C>G MANE Select | NP_203699.1:p.Pro1160Arg |