Linked Data
ClinVar Variation Id:
1710619
ClinVar RCV Id:
RCV002291906
gnomAD v3:
19-4090609-T-G
gnomAD v4:
19-4090609-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090609T>G , CM000681.2:g.4090609T>G | GRCh38 |
| NC_000019.9:g.4090607T>G , CM000681.1:g.4090607T>G | GRCh37 |
| NC_000019.8:g.4041607T>G | NCBI36 |
| NG_007996.1:g.38520A>C , LRG_750:g.38520A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1631A>C | ||
| ENST00000688002.1:n.3343A>C | ||
| ENST00000688751.1:n.328A>C | ||
| ENST00000689792.1:n.1096A>C | ||
| ENST00000262948.10:c.1192A>C MANE Select | ENSP00000262948.4:p.Thr398Pro | |
| ENST00000262948.9:c.1192A>C | ENSP00000262948.3:p.Thr398Pro | |
| ENST00000394867.8:c.901A>C | ENSP00000378336.1:p.Thr301Pro | |
| ENST00000597263.5:n.377A>C | ||
| ENST00000599021.1:c.302A>C | ||
| ENST00000600584.5:n.2641A>C | ||
| ENST00000601786.5:n.1493A>C | ||
| NM_030662.3:c.1192A>C , LRG_750t1:c.1192A>C | NP_109587.1:p.Thr398Pro | |
| XM_006722799.2:c.913A>C | XP_006722862.1:p.Thr305Pro | |
| XM_011528133.1:c.622A>C | XP_011526435.1:p.Thr208Pro | |
| NM_030662.4:c.1192A>C MANE Select | NP_109587.1:p.Thr398Pro |