Linked Data
ClinVar Variation Id:
329319
dbSNP Id:
rs200914063
ExAC:
19:41120211 C / G
gnomAD v2:
19-41120211-C-G
gnomAD v3:
19-40614305-C-G
gnomAD v4:
19-40614305-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40614305C>G , CM000681.2:g.40614305C>G | GRCh38 |
| NC_000019.9:g.41120211C>G , CM000681.1:g.41120211C>G | GRCh37 |
| NC_000019.8:g.45812051C>G | NCBI36 |
| NG_021201.1:g.26140C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.2681-10C>G MANE Select | ENSP00000380031.5:n.2681-10C>G | |
| ENST00000204005.13:c.2771-10C>G | ENSP00000204005.10:n.2771-10C>G | |
| ENST00000243562.13:c.880-10C>G | ||
| ENST00000308370.11:c.2882-10C>G | ENSP00000311905.8:n.2882-10C>G | |
| ENST00000318809.11:n.195C>G | ||
| ENST00000396819.7:c.2681-10C>G | ENSP00000380031.4:n.2681-10C>G | |
| ENST00000593463.5:c.124-10C>G | ||
| ENST00000594448.5:n.126C>G | ||
| ENST00000595118.5:n.444-10C>G | ||
| ENST00000595665.1:n.114C>G | ||
| ENST00000596351.5:n.162C>G | ||
| ENST00000597071.5:c.198-10C>G | ||
| ENST00000597816.5:n.164C>G | ||
| ENST00000599724.5:c.206-10C>G | ENSP00000469785.1:n.206-10C>G | |
| ENST00000600499.5:n.281-10C>G | ||
| ENST00000601032.5:c.576-10C>G | ||
| ENST00000601464.5:n.164C>G | ||
| ENST00000602251.5:n.444-10C>G | ||
| ENST00000610893.4:n.279-10C>G | ||
| ENST00000612121.4:c.312-10C>G | ||
| ENST00000612845.4:n.240-10C>G | ||
| ENST00000617753.4:n.130C>G | ||
| ENST00000618486.4:c.124-10C>G | ||
| ENST00000622107.4:n.130C>G | ||
| ENST00000622565.4:n.322-10C>G | ||
| NM_001042544.1:c.2882-10C>G | NP_001036009.1:n.2882-10C>G | |
| NM_001042545.1:c.2681-10C>G | NP_001036010.1:n.2681-10C>G | |
| NM_003573.2:c.2771-10C>G | NP_003564.2:n.2771-10C>G | |
| XM_011527376.1:c.2996-10C>G | XP_011525678.1:n.2996-10C>G | |
| XM_011527377.1:c.2915-10C>G | XP_011525679.1:n.2915-10C>G | |
| XM_011527378.1:c.2915-10C>G | XP_011525680.1:n.2915-10C>G | |
| XM_011527379.1:c.2795-10C>G | XP_011525681.1:n.2795-10C>G | |
| XM_011527380.1:c.2789-10C>G | XP_011525682.1:n.2789-10C>G | |
| XM_011527381.1:c.2915-10C>G | XP_011525683.1:n.2915-10C>G | |
| XM_011527382.1:c.2672-10C>G | XP_011525684.1:n.2672-10C>G | |
| XM_011527383.1:c.2915-10C>G | XP_011525685.1:n.2915-10C>G | |
| XM_011527384.1:c.2915-10C>G | XP_011525686.1:n.2915-10C>G | |
| XM_011527385.1:c.2915-10C>G | XP_011525687.1:n.2915-10C>G | |
| XM_011527386.1:c.2915-10C>G | XP_011525688.1:n.2915-10C>G | |
| XM_011527387.1:c.2273-10C>G | XP_011525689.1:n.2273-10C>G | |
| XM_011527376.2:c.2996-10C>G | XP_011525678.1:n.2996-10C>G | |
| XM_011527377.2:c.2915-10C>G | XP_011525679.1:n.2915-10C>G | |
| XM_011527378.2:c.2915-10C>G | XP_011525680.1:n.2915-10C>G | |
| XM_011527380.2:c.2789-10C>G | XP_011525682.1:n.2789-10C>G | |
| XM_011527381.2:c.2915-10C>G | XP_011525683.1:n.2915-10C>G | |
| XM_011527382.2:c.2672-10C>G | XP_011525684.1:n.2672-10C>G | |
| XM_011527383.2:c.2915-10C>G | XP_011525685.1:n.2915-10C>G | |
| XM_011527384.2:c.2915-10C>G | XP_011525686.1:n.2915-10C>G | |
| XM_011527385.2:c.2915-10C>G | XP_011525687.1:n.2915-10C>G | |
| XM_011527386.2:c.2915-10C>G | XP_011525688.1:n.2915-10C>G | |
| XM_017027352.1:c.2915-10C>G | XP_016882841.1:n.2915-10C>G | |
| XM_017027353.1:c.2915-10C>G | XP_016882842.1:n.2915-10C>G | |
| XM_017027354.1:c.2789-10C>G | XP_016882843.1:n.2789-10C>G | |
| NM_001042545.2:c.2681-10C>G MANE Select | NP_001036010.1:n.2681-10C>G |