Linked Data
ClinVar Variation Id:
993
ClinVar RCV Id:
RCV000001048
dbSNP Id:
rs104894131
gnomAD v2:
9-100451882-C-A
gnomAD v4:
9-97689600-C-A
PubMed:
PMID:1339397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97689600C>A , CM000671.2:g.97689600C>A | GRCh38 |
| NC_000009.11:g.100451882C>A , CM000671.1:g.100451882C>A | GRCh37 |
| NC_000009.10:g.99491703C>A | NCBI36 |
| NG_011642.1:g.12810G>T , LRG_471:g.12810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.323G>T MANE Select | ENSP00000364270.5:p.Cys108Phe | |
| ENST00000375128.4:c.323G>T | ENSP00000364270.4:p.Cys108Phe | |
| ENST00000462523.5:c.323G>T | ENSP00000433006.1:p.Cys108Phe | |
| ENST00000496104.1:n.184-2339G>T | ||
| NM_000380.3:c.323G>T , LRG_471t1:c.323G>T | NP_000371.1:p.Cys108Phe | |
| NR_027302.1:n.440G>T | ||
| XM_006717278.1:c.323G>T | XP_006717341.1:p.Cys108Phe | |
| XM_011518988.1:c.323G>T | XP_011517290.1:p.Cys108Phe | |
| XR_929839.1:n.434G>T | ||
| NM_001354975.1:c.197G>T | NP_001341904.1:p.Cys66Phe | |
| NR_149091.1:n.400+4049G>T | ||
| NR_149092.1:n.401-2339G>T | ||
| NR_149093.1:n.440G>T | ||
| NR_149094.1:n.401-2339G>T | ||
| NM_000380.4:c.323G>T MANE Select | NP_000371.1:p.Cys108Phe | |
| NM_001354975.2:c.197G>T | NP_001341904.1:p.Cys66Phe | |
| NR_027302.2:n.371G>T | ||
| NR_149091.2:n.331+4049G>T | ||
| NR_149092.2:n.332-2339G>T | ||
| NR_149093.2:n.371G>T | ||
| NR_149094.2:n.332-2339G>T |