Linked Data
ClinVar Variation Id:
2470621
ClinVar RCV Id:
RCV004257134
dbSNP Id:
rs754767665
ExAC:
19:7998858 C / T
gnomAD v2:
19-7998858-C-T
gnomAD v3:
19-7933973-C-T
gnomAD v4:
19-7933973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933973C>T , CM000681.2:g.7933973C>T | GRCh38 |
| NC_000019.9:g.7998858C>T , CM000681.1:g.7998858C>T | GRCh37 |
| NC_000019.8:g.7904858C>T | NCBI36 |
| NG_051180.1:g.14851G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.574G>A MANE Select | ENSP00000270538.2:p.Asp192Asn | |
| ENST00000270538.7:c.574G>A | ENSP00000270538.2:p.Asp192Asn | |
| ENST00000595831.5:c.561G>A | ||
| ENST00000595876.5:c.*262G>A | ENSP00000471596.1:n.*262G>A | |
| ENST00000597926.1:c.478G>A | ENSP00000469389.1:p.Asp160Asn | |
| ENST00000600748.5:n.559G>A | ||
| NM_006351.3:c.574G>A | NP_006342.2:p.Asp192Asn | |
| NM_006351.4:c.574G>A MANE Select | NP_006342.2:p.Asp192Asn |