Linked Data
ClinVar Variation Id:
2477751
ClinVar RCV Id:
RCV004271448
dbSNP Id:
rs1302417277
gnomAD v3:
20-61928272-G-C
gnomAD v4:
20-61928272-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928272G>C , CM000682.2:g.61928272G>C | GRCh38 |
| NC_000020.10:g.60503330G>C , CM000682.1:g.60503330G>C | GRCh37 |
| NC_000020.9:g.59936725G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1854G>C MANE Select | ENSP00000484928.1:p.Lys618Asn | |
| ENST00000543233.2:c.1632G>C | ENSP00000443301.1:p.Lys544Asn | |
| ENST00000611855.4:c.1572G>C | ENSP00000480844.1:p.Lys524Asn | |
| ENST00000614565.4:c.1854G>C | ENSP00000484928.1:p.Lys618Asn | |
| NM_001252338.2:c.1743G>C | NP_001239267.1:p.Lys581Asn | |
| NM_001252339.2:c.1632G>C | NP_001239268.1:p.Lys544Asn | |
| NM_001794.4:c.1854G>C | NP_001785.2:p.Lys618Asn | |
| NM_001794.5:c.1854G>C MANE Select | NP_001785.2:p.Lys618Asn | |
| NM_001252339.3:c.1632G>C | NP_001239268.1:p.Lys544Asn |