Linked Data
ClinVar Variation Id:
135462
dbSNP Id:
rs188860873
ExAC:
9:100437771 G / A
gnomAD v2:
9-100437771-G-A
gnomAD v3:
9-97675489-G-A
gnomAD v4:
9-97675489-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675489G>A , CM000671.2:g.97675489G>A | GRCh38 |
| NC_000009.11:g.100437771G>A , CM000671.1:g.100437771G>A | GRCh37 |
| NC_000009.10:g.99477592G>A | NCBI36 |
| NG_011642.1:g.26921C>T , LRG_471:g.26921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.772C>T MANE Select | ENSP00000364270.5:p.Arg258Cys | |
| ENST00000375128.4:c.772C>T | ENSP00000364270.4:p.Arg258Cys | |
| ENST00000462523.5:c.*208C>T | ENSP00000433006.1:n.*208C>T | |
| ENST00000485042.1:n.284C>T | ||
| NM_000380.3:c.772C>T , LRG_471t1:c.772C>T | NP_000371.1:p.Arg258Cys | |
| NR_027302.1:n.1120C>T | ||
| XM_006717278.1:c.772C>T | XP_006717341.1:p.Pro258Ser | |
| XM_011518988.1:c.772C>T | XP_011517290.1:p.Arg258Cys | |
| NM_001354975.1:c.646C>T | NP_001341904.1:p.Arg216Cys | |
| NR_149091.1:n.617C>T | ||
| NR_149092.1:n.783C>T | ||
| NR_149093.1:n.1309C>T | ||
| NR_149094.1:n.1203C>T | ||
| NM_000380.4:c.772C>T MANE Select | NP_000371.1:p.Arg258Cys | |
| NM_001354975.2:c.646C>T | NP_001341904.1:p.Arg216Cys | |
| NR_027302.2:n.1051C>T | ||
| NR_149091.2:n.548C>T | ||
| NR_149092.2:n.714C>T | ||
| NR_149093.2:n.1240C>T | ||
| NR_149094.2:n.1134C>T |