Linked Data
ClinVar Variation Id:
889500
ClinVar RCV Id:
RCV001123447
dbSNP Id:
rs1350146301
gnomAD v3:
19-35826573-C-T
gnomAD v4:
19-35826573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826573C>T , CM000681.2:g.35826573C>T | GRCh38 |
| NC_000019.9:g.36317475C>T , CM000681.1:g.36317475C>T | GRCh37 |
| NC_000019.8:g.41009315C>T | NCBI36 |
| NG_013356.2:g.47715G>A , LRG_693:g.47715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3667G>A MANE Select | ENSP00000368190.4:p.Asp1223Asn | |
| ENST00000353632.6:c.3547G>A | ENSP00000343634.5:p.Asp1183Asn | |
| ENST00000378910.9:c.3667G>A | ENSP00000368190.4:p.Asp1223Asn | |
| NM_004646.3:c.3667G>A , LRG_693t1:c.3667G>A | NP_004637.1:p.Asp1223Asn | |
| NM_004646.4:c.3667G>A MANE Select | NP_004637.1:p.Asp1223Asn |