Linked Data
dbSNP Id:
rs2058355574
gnomAD v3:
11-64751440-C-G
gnomAD v4:
11-64751440-C-G
COSMIC:
COSM4719622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751440C>G , CM000673.2:g.64751440C>G | GRCh38 |
| NC_000011.9:g.64518912C>G , CM000673.1:g.64518912C>G | GRCh37 |
| NC_000011.8:g.64275488C>G | NCBI36 |
| NG_013018.1:g.14276G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1854G>C MANE Select | ENSP00000164139.3:p.Lys618Asn | |
| ENST00000164139.3:c.1854G>C | ENSP00000164139.3:p.Lys618Asn | |
| ENST00000377432.7:c.1590G>C | ENSP00000366650.3:p.Lys530Asn | |
| ENST00000462303.1:n.178G>C | ||
| NM_001164716.1:c.1590G>C | NP_001158188.1:p.Lys530Asn | |
| NM_005609.2:c.1854G>C | NP_005600.1:p.Lys618Asn | |
| NM_005609.3:c.1854G>C | NP_005600.1:p.Lys618Asn | |
| NM_005609.4:c.1854G>C MANE Select | NP_005600.1:p.Lys618Asn |