Linked Data
ClinVar Variation Id:
220959
dbSNP Id:
rs113984787
ExAC:
19:49671207 G / A
gnomAD v2:
19-49671207-G-A
gnomAD v3:
19-49167950-G-A
gnomAD v4:
19-49167950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49167950G>A , CM000681.2:g.49167950G>A | GRCh38 |
| NC_000019.9:g.49671207G>A , CM000681.1:g.49671207G>A | GRCh37 |
| NC_000019.8:g.54363019G>A | NCBI36 |
| NG_027551.1:g.15192G>A | |
| NG_027551.2:g.15192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.301G>A MANE Select | ENSP00000252826.4:p.Ala101Thr | |
| ENST00000252826.9:c.301G>A | ENSP00000252826.4:p.Ala101Thr | |
| ENST00000427978.6:c.301G>A | ENSP00000407492.1:p.Ala101Thr | |
| ENST00000594568.1:n.307G>A | ||
| ENST00000595519.5:c.93-310G>A | ENSP00000469893.1:n.93-310G>A | |
| ENST00000596338.5:n.336G>A | ||
| ENST00000598502.5:c.268-310G>A | ENSP00000470229.1:n.268-310G>A | |
| ENST00000598691.5:c.268-603G>A | ENSP00000473231.1:n.268-603G>A | |
| ENST00000598697.5:c.93-603G>A | ENSP00000468989.1:n.93-603G>A | |
| NM_001195227.1:c.301G>A | NP_001182156.1:p.Ala101Thr | |
| NM_017636.3:c.301G>A | NP_060106.2:p.Ala101Thr | |
| XM_011527046.1:c.-74-310G>A | XP_011525348.1:n.-74-310G>A | |
| NM_001321281.1:c.268-603G>A | NP_001308210.1:n.268-603G>A | |
| NM_001321282.1:c.-1105-310G>A | NP_001308211.1:n.-1105-310G>A | |
| NM_001321283.1:c.-74-310G>A | NP_001308212.1:n.-74-310G>A | |
| NM_001321285.1:c.-237-603G>A | NP_001308214.1:n.-237-603G>A | |
| NM_017636.4:c.301G>A MANE Select | NP_060106.2:p.Ala101Thr | |
| NM_001195227.2:c.301G>A | NP_001182156.1:p.Ala101Thr | |
| NM_001321281.2:c.268-603G>A | NP_001308210.1:n.268-603G>A | |
| NM_001321282.2:c.-1105-310G>A | NP_001308211.1:n.-1105-310G>A | |
| NM_001321283.2:c.-74-310G>A | NP_001308212.1:n.-74-310G>A | |
| NM_001321285.2:c.-237-603G>A | NP_001308214.1:n.-237-603G>A |