Linked Data
ClinVar Variation Id:
590340
dbSNP Id:
rs75065106
ExAC:
12:103246663 G / A
gnomAD v2:
12-103246663-G-A
gnomAD v3:
12-102852885-G-A
gnomAD v4:
12-102852885-G-A
ERepo:
CA6748843/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852885G>A , CM000674.2:g.102852885G>A | GRCh38 |
| NC_000012.11:g.103246663G>A , CM000674.1:g.103246663G>A | GRCh37 |
| NC_000012.10:g.101770793G>A | NCBI36 |
| NG_008690.1:g.69718C>T | |
| NG_008690.2:g.110526C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.772C>T MANE Select | ENSP00000448059.1:p.Leu258= | |
| ENST00000307000.7:c.757C>T | ENSP00000303500.2:p.Leu253= | |
| ENST00000549247.6:n.531C>T | ||
| ENST00000553106.5:c.772C>T | ENSP00000448059.1:p.Leu258= | |
| NM_000277.1:c.772C>T | NP_000268.1:p.Leu258= | |
| XM_011538422.1:c.772C>T | XP_011536724.1:p.Leu258= | |
| NM_000277.2:c.772C>T | NP_000268.1:p.Leu258= | |
| NM_001354304.1:c.772C>T | NP_001341233.1:p.Leu258= | |
| NM_000277.3:c.772C>T MANE Select | NP_000268.1:p.Leu258= | |
| NM_001354304.2:c.772C>T | NP_001341233.1:p.Leu258= |