Linked Data
ClinVar Variation Id:
2941964
ClinVar RCV Id:
RCV003802986
dbSNP Id:
rs1198292626
gnomAD v2:
17-40695852-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543834C>A , CM000679.2:g.42543834C>A | GRCh38 |
| NC_000017.10:g.40695852C>A , CM000679.1:g.40695852C>A | GRCh37 |
| NC_000017.9:g.37949378C>A | NCBI36 |
| NG_011552.1:g.12902C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1828C>A MANE Select | ENSP00000225927.1:p.Leu610Met | |
| ENST00000225927.6:c.1828C>A | ENSP00000225927.1:p.Leu610Met | |
| ENST00000591587.1:c.1166C>A | ENSP00000467836.1:n.1166C>A | |
| NM_000263.3:c.1828C>A | NP_000254.2:p.Leu610Met | |
| XM_006721920.2:c.997C>A | XP_006721983.1:p.Leu333Met | |
| XM_011524840.1:c.829C>A | XP_011523142.1:p.Leu277Met | |
| XM_017024687.1:c.997C>A | XP_016880176.1:p.Leu333Met | |
| XM_024450771.1:c.1885C>A | XP_024306539.1:p.Leu629Met | |
| XM_024450772.1:c.829C>A | XP_024306540.1:p.Leu277Met | |
| NM_000263.4:c.1828C>A MANE Select | NP_000254.2:p.Leu610Met |