Linked Data
ClinVar Variation Id:
240166
ClinVar RCV Id:
RCV000234623
dbSNP Id:
rs878854773
gnomAD v2:
15-73616049-G-A
gnomAD v3:
15-73323708-G-A
gnomAD v4:
15-73323708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323708G>A , CM000677.2:g.73323708G>A | GRCh38 |
| NC_000015.9:g.73616049G>A , CM000677.1:g.73616049G>A | GRCh37 |
| NC_000015.8:g.71403102G>A | NCBI36 |
| NG_009063.1:g.50557C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2385C>T MANE Select | ENSP00000261917.3:p.Leu795= | |
| ENST00000261917.3:c.2385C>T | ENSP00000261917.3:p.Leu795= | |
| NM_005477.2:c.2385C>T | NP_005468.1:p.Leu795= | |
| XM_011521148.1:c.1167C>T | XP_011519450.1:p.Leu389= | |
| XM_011521148.2:c.1167C>T | XP_011519450.1:p.Leu389= | |
| NM_005477.3:c.2385C>T MANE Select | NP_005468.1:p.Leu795= |