Linked Data
ClinVar Variation Id:
40811
dbSNP Id:
rs148291450
ExAC:
19:4101119 G / A
gnomAD v2:
19-4101119-G-A
gnomAD v3:
19-4101121-G-A
gnomAD v4:
19-4101121-G-A
ERepo:
CA137956/MONDO:0021060/004
PubMed:
PMID:18456719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4101121G>A , CM000681.2:g.4101121G>A | GRCh38 |
| NC_000019.9:g.4101119G>A , CM000681.1:g.4101119G>A | GRCh37 |
| NC_000019.8:g.4052119G>A | NCBI36 |
| NG_007996.1:g.28008C>T , LRG_750:g.28008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1042C>T | ||
| ENST00000687128.1:n.1042C>T | ||
| ENST00000689792.1:n.543C>T | ||
| ENST00000262948.10:c.603C>T MANE Select | ENSP00000262948.4:p.Leu201= | |
| ENST00000262948.9:c.603C>T | ENSP00000262948.3:p.Leu201= | |
| ENST00000394867.8:c.312C>T | ENSP00000378336.1:p.Leu104= | |
| ENST00000593364.5:n.550C>T | ||
| ENST00000597008.5:n.204C>T | ||
| ENST00000597263.5:n.67C>T | ||
| ENST00000599345.1:n.873C>T | ||
| ENST00000601786.5:n.904C>T | ||
| ENST00000602167.5:n.323C>T | ||
| NM_030662.3:c.603C>T , LRG_750t1:c.603C>T | NP_109587.1:p.Leu201= | |
| XM_006722799.2:c.603C>T | XP_006722862.1:p.Leu201= | |
| XM_011528133.1:c.33C>T | XP_011526435.1:p.Leu11= | |
| XM_017026989.1:c.603C>T | XP_016882478.1:p.Leu201= | |
| XM_017026990.1:c.603C>T | XP_016882479.1:p.Leu201= | |
| XM_017026991.1:c.603C>T | XP_016882480.1:p.Leu201= | |
| NM_030662.4:c.603C>T MANE Select | NP_109587.1:p.Leu201= |