Linked Data
ClinVar Variation Id:
2312144
ClinVar RCV Id:
RCV004156436
dbSNP Id:
rs958643421
gnomAD v3:
5-148827251-G-C
gnomAD v4:
5-148827251-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827251G>C , CM000667.2:g.148827251G>C | GRCh38 |
| NC_000005.9:g.148206814G>C , CM000667.1:g.148206814G>C | GRCh37 |
| NC_000005.8:g.148187007G>C | NCBI36 |
| NG_016421.1:g.5659G>C | |
| NG_016421.2:g.5659G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.420G>C MANE Select | ENSP00000305372.4:p.Lys140Asn | |
| ENST00000305988.5:c.420G>C | ENSP00000305372.4:p.Lys140Asn | |
| NM_000024.5:c.420G>C | NP_000015.1:p.Lys140Asn | |
| NM_000024.6:c.420G>C MANE Select | NP_000015.2:p.Lys140Asn |