Linked Data
ClinVar Variation Id:
502056
dbSNP Id:
rs377290147
ExAC:
2:219679651 G / C
gnomAD v2:
2-219679651-G-C
gnomAD v4:
2-218814928-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814928G>C , CM000664.2:g.218814928G>C | GRCh38 |
| NC_000002.11:g.219679651G>C , CM000664.1:g.219679651G>C | GRCh37 |
| NC_000002.10:g.219387895G>C | NCBI36 |
| NG_007959.1:g.38180G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258415.9:c.1494G>C MANE Select | ENSP00000258415.4:p.Lys498Asn | |
| ENST00000258415.8:c.1494G>C | ENSP00000258415.4:p.Lys498Asn | |
| ENST00000494263.5:n.2206G>C | ||
| NM_000784.3:c.1494G>C | NP_000775.1:p.Lys498Asn | |
| XM_017003488.2:c.1074G>C | XP_016858977.1:p.Lys358Asn | |
| NM_000784.4:c.1494G>C MANE Select | NP_000775.1:p.Lys498Asn |