Linked Data
ClinVar Variation Id:
1102242
ClinVar RCV Id:
RCV001425462
dbSNP Id:
rs1404827828
gnomAD v2:
1-68895602-G-A
gnomAD v3:
1-68429919-G-A
gnomAD v4:
1-68429919-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429919G>A , CM000663.2:g.68429919G>A | GRCh38 |
| NC_000001.10:g.68895602G>A , CM000663.1:g.68895602G>A | GRCh37 |
| NC_000001.9:g.68668190G>A | NCBI36 |
| NG_008472.1:g.25041C>T | |
| NG_008472.2:g.25041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1459C>T MANE Select | ENSP00000262340.5:p.Leu487= | |
| ENST00000262340.5:c.1459C>T | ENSP00000262340.5:p.Leu487= | |
| NM_000329.2:c.1459C>T | NP_000320.1:p.Leu487= | |
| XM_017002027.1:c.1183C>T | XP_016857516.1:p.Leu395= | |
| NM_000329.3:c.1459C>T MANE Select | NP_000320.1:p.Leu487= |