Linked Data
ClinVar Variation Id:
329323
dbSNP Id:
rs768587659
ExAC:
19:41122916 C / T
gnomAD v2:
19-41122916-C-T
gnomAD v3:
19-40617010-C-T
gnomAD v4:
19-40617010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40617010C>T , CM000681.2:g.40617010C>T | GRCh38 |
| NC_000019.9:g.41122916C>T , CM000681.1:g.41122916C>T | GRCh37 |
| NC_000019.8:g.45814756C>T | NCBI36 |
| NG_021201.1:g.28845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.2934C>T MANE Select | ENSP00000380031.5:p.Gly978= | |
| ENST00000204005.13:c.3024C>T | ENSP00000204005.10:p.Gly1008= | |
| ENST00000243562.13:c.1133C>T | ||
| ENST00000308370.11:c.3135C>T | ENSP00000311905.8:p.Gly1045= | |
| ENST00000318809.11:n.337-2337C>T | ||
| ENST00000396819.7:c.2934C>T | ENSP00000380031.4:p.Gly978= | |
| ENST00000593463.5:c.377C>T | ||
| ENST00000594448.5:n.389C>T | ||
| ENST00000595118.5:n.576-2337C>T | ||
| ENST00000595665.1:n.377C>T | ||
| ENST00000596351.5:n.304-2337C>T | ||
| ENST00000597071.5:c.451C>T | ||
| ENST00000597816.5:n.306-2337C>T | ||
| ENST00000599724.5:c.338-2337C>T | ENSP00000469785.1:n.338-2337C>T | |
| ENST00000600499.5:n.534C>T | ||
| ENST00000601032.5:c.708-2337C>T | ||
| ENST00000601464.5:n.467C>T | ||
| ENST00000610893.4:n.411-90C>T | ||
| ENST00000612121.4:c.444-90C>T | ||
| ENST00000612845.4:n.372-90C>T | ||
| ENST00000617753.4:n.393C>T | ||
| ENST00000618486.4:c.256-90C>T | ||
| ENST00000622107.4:n.272-90C>T | ||
| ENST00000622457.1:c.101C>T | ||
| ENST00000622565.4:n.454-90C>T | ||
| NM_001042544.1:c.3135C>T | NP_001036009.1:p.Gly1045= | |
| NM_001042545.1:c.2934C>T | NP_001036010.1:p.Gly978= | |
| NM_003573.2:c.3024C>T | NP_003564.2:p.Gly1008= | |
| XM_011527376.1:c.3249C>T | XP_011525678.1:p.Gly1083= | |
| XM_011527377.1:c.3168C>T | XP_011525679.1:p.Gly1056= | |
| XM_011527378.1:c.3168C>T | XP_011525680.1:p.Gly1056= | |
| XM_011527379.1:c.3048C>T | XP_011525681.1:p.Gly1016= | |
| XM_011527380.1:c.3042C>T | XP_011525682.1:p.Gly1014= | |
| XM_011527381.1:c.3168C>T | XP_011525683.1:p.Gly1056= | |
| XM_011527382.1:c.2925C>T | XP_011525684.1:p.Gly975= | |
| XM_011527383.1:c.3168C>T | XP_011525685.1:p.Gly1056= | |
| XM_011527384.1:c.3168C>T | XP_011525686.1:p.Gly1056= | |
| XM_011527385.1:c.3047-90C>T | XP_011525687.1:n.3047-90C>T | |
| XM_011527386.1:c.3047-2337C>T | XP_011525688.1:n.3047-2337C>T | |
| XM_011527387.1:c.2526C>T | XP_011525689.1:p.Gly842= | |
| XM_011527376.2:c.3249C>T | XP_011525678.1:p.Gly1083= | |
| XM_011527377.2:c.3168C>T | XP_011525679.1:p.Gly1056= | |
| XM_011527378.2:c.3168C>T | XP_011525680.1:p.Gly1056= | |
| XM_011527380.2:c.3042C>T | XP_011525682.1:p.Gly1014= | |
| XM_011527381.2:c.3168C>T | XP_011525683.1:p.Gly1056= | |
| XM_011527382.2:c.2925C>T | XP_011525684.1:p.Gly975= | |
| XM_011527383.2:c.3168C>T | XP_011525685.1:p.Gly1056= | |
| XM_011527384.2:c.3168C>T | XP_011525686.1:p.Gly1056= | |
| XM_011527385.2:c.3047-90C>T | XP_011525687.1:n.3047-90C>T | |
| XM_011527386.2:c.3047-2337C>T | XP_011525688.1:n.3047-2337C>T | |
| XM_017027352.1:c.3047-90C>T | XP_016882841.1:n.3047-90C>T | |
| XM_017027353.1:c.3047-2337C>T | XP_016882842.1:n.3047-2337C>T | |
| XM_017027354.1:c.3042C>T | XP_016882843.1:p.Gly1014= | |
| NM_001042545.2:c.2934C>T MANE Select | NP_001036010.1:p.Gly978= |