Linked Data
ClinVar Variation Id:
2197234
ClinVar RCV Id:
RCV002624795
dbSNP Id:
rs773243822
ExAC:
19:47980111 G / A
gnomAD v2:
19-47980111-G-A
gnomAD v3:
19-47476854-G-A
gnomAD v4:
19-47476854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47476854G>A , CM000681.2:g.47476854G>A | GRCh38 |
| NC_000019.9:g.47980111G>A , CM000681.1:g.47980111G>A | GRCh37 |
| NC_000019.8:g.52671923G>A | NCBI36 |
| NG_034097.1:g.12411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338134.8:c.948C>T MANE Select | ENSP00000337850.2:p.Thr316= | |
| ENST00000338134.7:c.948C>T | ENSP00000337850.2:p.Thr316= | |
| ENST00000594208.5:c.*582C>T | ENSP00000470364.1:n.*582C>T | |
| ENST00000595554.1:c.780C>T | ENSP00000469446.1:p.Thr260= | |
| NM_001291296.1:c.780C>T | NP_001278225.1:p.Thr260= | |
| NM_007059.3:c.948C>T | NP_008990.2:p.Thr316= | |
| NR_111923.1:n.1139C>T | ||
| XM_011526398.1:c.1134C>T | XP_011524700.1:p.Thr378= | |
| XM_011526399.1:c.1134C>T | XP_011524701.1:p.Thr378= | |
| XM_011526400.1:c.1134C>T | XP_011524702.1:p.Thr378= | |
| XM_011526401.1:c.966C>T | XP_011524703.1:p.Thr322= | |
| XM_017026226.1:c.1200C>T | XP_016881715.1:p.Thr400= | |
| XM_017026227.1:c.1200C>T | XP_016881716.1:p.Thr400= | |
| XM_017026228.1:c.1200C>T | XP_016881717.1:p.Thr400= | |
| XM_024451333.1:c.948C>T | XP_024307101.1:p.Thr316= | |
| XR_001753597.1:n.1402C>T | ||
| NM_007059.4:c.948C>T MANE Select | NP_008990.2:p.Thr316= | |
| NM_001291296.2:c.780C>T | NP_001278225.1:p.Thr260= | |
| NR_111923.2:n.1094C>T |