Linked Data
ClinVar Variation Id:
728584
ClinVar RCV Id:
RCV000903090
dbSNP Id:
rs574896397
ExAC:
19:49477898 A / G
gnomAD v2:
19-49477898-A-G
gnomAD v3:
19-48974641-A-G
gnomAD v4:
19-48974641-A-G
COSMIC:
COSM3680986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974641A>G , CM000681.2:g.48974641A>G | GRCh38 |
| NC_000019.9:g.49477898A>G , CM000681.1:g.49477898A>G | GRCh37 |
| NC_000019.8:g.54169710A>G | NCBI36 |
| NG_012923.1:g.23713T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1401T>C MANE Select | ENSP00000317904.3:p.Asn467= | |
| ENST00000263276.6:c.1209T>C | ENSP00000263276.6:p.Asn403= | |
| ENST00000323798.7:c.1401T>C | ENSP00000317904.3:p.Asn467= | |
| ENST00000472004.5:n.156T>C | ||
| ENST00000496048.1:n.308T>C | ||
| NM_001161587.1:c.1209T>C | NP_001155059.1:p.Asn403= | |
| NM_002103.4:c.1401T>C | NP_002094.2:p.Asn467= | |
| NR_027763.1:n.1460T>C | ||
| NM_002103.5:c.1401T>C MANE Select | NP_002094.2:p.Asn467= | |
| NM_001161587.2:c.1209T>C | NP_001155059.1:p.Asn403= | |
| NR_027763.2:n.1416T>C |