Linked Data
ClinVar Variation Id:
2004162
ClinVar RCV Id:
RCV002828190
dbSNP Id:
rs1892589863
gnomAD v3:
14-23424010-T-C
gnomAD v4:
14-23424010-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424010T>C , CM000676.2:g.23424010T>C | GRCh38 |
| NC_000014.8:g.23893219T>C , CM000676.1:g.23893219T>C | GRCh37 |
| NC_000014.7:g.22963059T>C | NCBI36 |
| NG_007884.1:g.16652A>G , LRG_384:g.16652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2819A>G MANE Select | ENSP00000347507.3:p.Lys940Arg | |
| ENST00000355349.3:c.2819A>G | ENSP00000347507.3:p.Lys940Arg | |
| NM_000257.3:c.2819A>G | NP_000248.2:p.Lys940Arg | |
| XR_245686.3:n.2925A>G | ||
| XM_017021340.1:c.2819A>G | XP_016876829.1:p.Lys940Arg | |
| NM_000257.4:c.2819A>G MANE Select | NP_000248.2:p.Lys940Arg |