Linked Data
ClinVar Variation Id:
731723
dbSNP Id:
rs3176749
ExAC:
9:100437843 C / A
gnomAD v2:
9-100437843-C-A
gnomAD v3:
9-97675561-C-A
gnomAD v4:
9-97675561-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675561C>A , CM000671.2:g.97675561C>A | GRCh38 |
| NC_000009.11:g.100437843C>A , CM000671.1:g.100437843C>A | GRCh37 |
| NC_000009.10:g.99477664C>A | NCBI36 |
| NG_011642.1:g.26849G>T , LRG_471:g.26849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.700G>T MANE Select | ENSP00000364270.5:p.Val234Leu | |
| ENST00000375128.4:c.700G>T | ENSP00000364270.4:p.Val234Leu | |
| ENST00000462523.5:c.*136G>T | ENSP00000433006.1:n.*136G>T | |
| ENST00000485042.1:n.212G>T | ||
| NM_000380.3:c.700G>T , LRG_471t1:c.700G>T | NP_000371.1:p.Val234Leu | |
| NR_027302.1:n.1048G>T | ||
| XM_006717278.1:c.700G>T | XP_006717341.1:p.Val234Leu | |
| XM_011518988.1:c.700G>T | XP_011517290.1:p.Val234Leu | |
| XR_929839.1:n.1231G>T | ||
| NM_001354975.1:c.574G>T | NP_001341904.1:p.Val192Leu | |
| NR_149091.1:n.545G>T | ||
| NR_149092.1:n.711G>T | ||
| NR_149093.1:n.1237G>T | ||
| NR_149094.1:n.1131G>T | ||
| NM_000380.4:c.700G>T MANE Select | NP_000371.1:p.Val234Leu | |
| NM_001354975.2:c.574G>T | NP_001341904.1:p.Val192Leu | |
| NR_027302.2:n.979G>T | ||
| NR_149091.2:n.476G>T | ||
| NR_149092.2:n.642G>T | ||
| NR_149093.2:n.1168G>T | ||
| NR_149094.2:n.1062G>T |