Linked Data
ClinVar Variation Id:
2200153
ClinVar RCV Id:
RCV002644055
dbSNP Id:
rs139299861
ExAC:
19:47983126 C / T
gnomAD v2:
19-47983126-C-T
gnomAD v3:
19-47479869-C-T
gnomAD v4:
19-47479869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47479869C>T , CM000681.2:g.47479869C>T | GRCh38 |
| NC_000019.9:g.47983126C>T , CM000681.1:g.47983126C>T | GRCh37 |
| NC_000019.8:g.52674938C>T | NCBI36 |
| NG_034097.1:g.9396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338134.8:c.781G>A MANE Select | ENSP00000337850.2:p.Ala261Thr | |
| ENST00000338134.7:c.781G>A | ENSP00000337850.2:p.Ala261Thr | |
| ENST00000594208.5:c.*415G>A | ENSP00000470364.1:n.*415G>A | |
| ENST00000595554.1:c.613G>A | ENSP00000469446.1:p.Ala205Thr | |
| ENST00000600271.5:c.61G>A | ENSP00000472291.1:p.Ala21Thr | |
| NM_001291296.1:c.613G>A | NP_001278225.1:p.Ala205Thr | |
| NM_007059.3:c.781G>A | NP_008990.2:p.Ala261Thr | |
| NR_111923.1:n.972G>A | ||
| XM_011526398.1:c.967G>A | XP_011524700.1:p.Ala323Thr | |
| XM_011526399.1:c.967G>A | XP_011524701.1:p.Ala323Thr | |
| XM_011526400.1:c.967G>A | XP_011524702.1:p.Ala323Thr | |
| XM_011526401.1:c.799G>A | XP_011524703.1:p.Ala267Thr | |
| XM_017026226.1:c.1033G>A | XP_016881715.1:p.Ala345Thr | |
| XM_017026227.1:c.1033G>A | XP_016881716.1:p.Ala345Thr | |
| XM_017026228.1:c.1033G>A | XP_016881717.1:p.Ala345Thr | |
| XM_024451333.1:c.781G>A | XP_024307101.1:p.Ala261Thr | |
| XR_001753597.1:n.1235G>A | ||
| NM_007059.4:c.781G>A MANE Select | NP_008990.2:p.Ala261Thr | |
| NM_001291296.2:c.613G>A | NP_001278225.1:p.Ala205Thr | |
| NR_111923.2:n.927G>A |