Linked Data
ClinVar Variation Id:
135461
dbSNP Id:
rs3176750
ExAC:
9:100437789 G / C
gnomAD v2:
9-100437789-G-C
gnomAD v3:
9-97675507-G-C
gnomAD v4:
9-97675507-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675507G>C , CM000671.2:g.97675507G>C | GRCh38 |
| NC_000009.11:g.100437789G>C , CM000671.1:g.100437789G>C | GRCh37 |
| NC_000009.10:g.99477610G>C | NCBI36 |
| NG_011642.1:g.26903C>G , LRG_471:g.26903C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.754C>G MANE Select | ENSP00000364270.5:p.Leu252Val | |
| ENST00000375128.4:c.754C>G | ENSP00000364270.4:p.Leu252Val | |
| ENST00000462523.5:c.*190C>G | ENSP00000433006.1:n.*190C>G | |
| ENST00000485042.1:n.266C>G | ||
| NM_000380.3:c.754C>G , LRG_471t1:c.754C>G | NP_000371.1:p.Leu252Val | |
| NR_027302.1:n.1102C>G | ||
| XM_006717278.1:c.754C>G | XP_006717341.1:p.Leu252Val | |
| XM_011518988.1:c.754C>G | XP_011517290.1:p.Leu252Val | |
| XR_929839.1:n.1285C>G | ||
| NM_001354975.1:c.628C>G | NP_001341904.1:p.Leu210Val | |
| NR_149091.1:n.599C>G | ||
| NR_149092.1:n.765C>G | ||
| NR_149093.1:n.1291C>G | ||
| NR_149094.1:n.1185C>G | ||
| NM_000380.4:c.754C>G MANE Select | NP_000371.1:p.Leu252Val | |
| NM_001354975.2:c.628C>G | NP_001341904.1:p.Leu210Val | |
| NR_027302.2:n.1033C>G | ||
| NR_149091.2:n.530C>G | ||
| NR_149092.2:n.696C>G | ||
| NR_149093.2:n.1222C>G | ||
| NR_149094.2:n.1116C>G |