Linked Data
ClinVar Variation Id:
968878
ClinVar RCV Id:
RCV001244113
dbSNP Id:
rs371613038
ExAC:
1:235652566 C / A
gnomAD v2:
1-235652566-C-A
gnomAD v4:
1-235489261-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235489261C>A , CM000663.2:g.235489261C>A | GRCh38 |
| NC_000001.10:g.235652566C>A , CM000663.1:g.235652566C>A | GRCh37 |
| NC_000001.9:g.233719189C>A | NCBI36 |
| NG_033219.2:g.20221G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.268G>T MANE Select | ENSP00000355559.3:p.Val90Leu | |
| ENST00000675193.1:c.391G>T | ENSP00000502069.1:p.Val131Leu | |
| ENST00000675555.1:c.46G>T | ENSP00000501896.1:p.Val16Leu | |
| ENST00000676288.1:c.391G>T | ENSP00000502392.1:p.Val131Leu | |
| ENST00000313984.3:c.391G>T | ENSP00000315678.3:p.Val131Leu | |
| ENST00000366600.7:c.268G>T | ENSP00000355559.3:p.Val90Leu | |
| ENST00000494378.1:n.434-4746G>T | ||
| ENST00000612859.4:c.261-4746G>T | ENSP00000481548.1:n.261-4746G>T | |
| NM_001277155.2:c.391G>T | NP_001264084.1:p.Val131Leu | |
| NM_152490.4:c.268G>T | NP_689703.1:p.Val90Leu | |
| XM_005273071.3:c.268G>T | XP_005273128.1:p.Val90Leu | |
| XM_006711749.2:c.268G>T | XP_006711812.1:p.Val90Leu | |
| XM_011544096.1:c.268G>T | XP_011542398.1:p.Val90Leu | |
| XM_011544097.1:c.268G>T | XP_011542399.1:p.Val90Leu | |
| XM_006711749.3:c.268G>T | XP_006711812.1:p.Val90Leu | |
| XM_017000394.1:c.391G>T | XP_016855883.1:p.Val131Leu | |
| XM_017000395.1:c.391G>T | XP_016855884.1:p.Val131Leu | |
| XR_001736987.1:n.556G>T | ||
| XR_001736988.1:n.556G>T | ||
| XR_001736989.1:n.556G>T | ||
| XR_001736990.1:n.439G>T | ||
| NM_152490.5:c.268G>T MANE Select | NP_689703.1:p.Val90Leu | |
| NM_001277155.3:c.391G>T | NP_001264084.1:p.Val131Leu |