Linked Data
ClinVar Variation Id:
3206317
ClinVar RCV Id:
RCV004499716
dbSNP Id:
rs761677383
ExAC:
11:55579359 G / T
gnomAD v2:
11-55579359-G-T
gnomAD v3:
11-55811883-G-T
gnomAD v4:
11-55811883-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811883G>T , CM000673.2:g.55811883G>T | GRCh38 |
| NC_000011.9:g.55579359G>T , CM000673.1:g.55579359G>T | GRCh37 |
| NC_000011.8:g.55335935G>T | NCBI36 |
| NG_052620.1:g.5517G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.417G>T MANE Select | ENSP00000485319.1:p.Lys139Asn | |
| ENST00000333973.3:c.417G>T | ENSP00000335529.2:p.Lys139Asn | |
| ENST00000623450.1:c.417G>T | ENSP00000485509.1:p.Lys139Asn | |
| ENST00000625203.1:c.417G>T | ENSP00000485319.1:p.Lys139Asn | |
| NM_001004738.1:c.417G>T | NP_001004738.1:p.Lys139Asn | |
| NM_001004738.2:c.417G>T MANE Select | NP_001004738.1:p.Lys139Asn |