Linked Data
ClinVar Variation Id:
5398
ClinVar RCV Id:
RCV000005729
dbSNP Id:
rs267607229
PubMed:
PMID:19836010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40605768T>G , CM000681.2:g.40605768T>G | GRCh38 |
| NC_000019.9:g.41111674T>G , CM000681.1:g.41111674T>G | GRCh37 |
| NC_000019.8:g.45803514T>G | NCBI36 |
| NG_021201.1:g.17603T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396819.8:c.730T>G MANE Select | ENSP00000380031.5:p.Cys244Gly | |
| ENST00000204005.13:c.820T>G | ENSP00000204005.10:p.Cys274Gly | |
| ENST00000308370.11:c.931T>G | ENSP00000311905.8:p.Cys311Gly | |
| ENST00000396819.7:c.730T>G | ENSP00000380031.4:p.Cys244Gly | |
| ENST00000598717.5:n.429-5606T>G | ||
| NM_001042544.1:c.931T>G | NP_001036009.1:p.Cys311Gly | |
| NM_001042545.1:c.730T>G | NP_001036010.1:p.Cys244Gly | |
| NM_003573.2:c.820T>G | NP_003564.2:p.Cys274Gly | |
| XM_011527376.1:c.931T>G | XP_011525678.1:p.Cys311Gly | |
| XM_011527377.1:c.964T>G | XP_011525679.1:p.Cys322Gly | |
| XM_011527378.1:c.964T>G | XP_011525680.1:p.Cys322Gly | |
| XM_011527379.1:c.730T>G | XP_011525681.1:p.Cys244Gly | |
| XM_011527380.1:c.964T>G | XP_011525682.1:p.Cys322Gly | |
| XM_011527381.1:c.964T>G | XP_011525683.1:p.Cys322Gly | |
| XM_011527382.1:c.964T>G | XP_011525684.1:p.Cys322Gly | |
| XM_011527383.1:c.964T>G | XP_011525685.1:p.Cys322Gly | |
| XM_011527384.1:c.964T>G | XP_011525686.1:p.Cys322Gly | |
| XM_011527385.1:c.964T>G | XP_011525687.1:p.Cys322Gly | |
| XM_011527386.1:c.964T>G | XP_011525688.1:p.Cys322Gly | |
| XM_011527387.1:c.322T>G | XP_011525689.1:p.Cys108Gly | |
| XM_011527376.2:c.931T>G | XP_011525678.1:p.Cys311Gly | |
| XM_011527377.2:c.964T>G | XP_011525679.1:p.Cys322Gly | |
| XM_011527378.2:c.964T>G | XP_011525680.1:p.Cys322Gly | |
| XM_011527380.2:c.964T>G | XP_011525682.1:p.Cys322Gly | |
| XM_011527381.2:c.964T>G | XP_011525683.1:p.Cys322Gly | |
| XM_011527382.2:c.964T>G | XP_011525684.1:p.Cys322Gly | |
| XM_011527383.2:c.964T>G | XP_011525685.1:p.Cys322Gly | |
| XM_011527384.2:c.964T>G | XP_011525686.1:p.Cys322Gly | |
| XM_011527385.2:c.964T>G | XP_011525687.1:p.Cys322Gly | |
| XM_011527386.2:c.964T>G | XP_011525688.1:p.Cys322Gly | |
| XM_017027352.1:c.964T>G | XP_016882841.1:p.Cys322Gly | |
| XM_017027353.1:c.964T>G | XP_016882842.1:p.Cys322Gly | |
| XM_017027354.1:c.964T>G | XP_016882843.1:p.Cys322Gly | |
| NM_001042545.2:c.730T>G MANE Select | NP_001036010.1:p.Cys244Gly |