Linked Data
ClinVar Variation Id:
1504208
ClinVar RCV Id:
RCV002047740
dbSNP Id:
rs2145036668
gnomAD v4:
19-4090701-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090701G>T , CM000681.2:g.4090701G>T | GRCh38 |
| NC_000019.9:g.4090699G>T , CM000681.1:g.4090699G>T | GRCh37 |
| NC_000019.8:g.4041699G>T | NCBI36 |
| NG_007996.1:g.38428C>A , LRG_750:g.38428C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1539C>A | ||
| ENST00000688002.1:n.3251C>A | ||
| ENST00000688751.1:n.236C>A | ||
| ENST00000689792.1:n.1004C>A | ||
| ENST00000262948.10:c.1100C>A MANE Select | ENSP00000262948.4:p.Thr367Asn | |
| ENST00000262948.9:c.1100C>A | ENSP00000262948.3:p.Thr367Asn | |
| ENST00000394867.8:c.809C>A | ENSP00000378336.1:p.Thr270Asn | |
| ENST00000597263.5:n.285C>A | ||
| ENST00000599021.1:c.210C>A | ||
| ENST00000600584.5:n.2549C>A | ||
| ENST00000601786.5:n.1401C>A | ||
| NM_030662.3:c.1100C>A , LRG_750t1:c.1100C>A | NP_109587.1:p.Thr367Asn | |
| XM_006722799.2:c.821C>A | XP_006722862.1:p.Thr274Asn | |
| XM_011528133.1:c.530C>A | XP_011526435.1:p.Thr177Asn | |
| NM_030662.4:c.1100C>A MANE Select | NP_109587.1:p.Thr367Asn |