Linked Data
ClinVar Variation Id:
996
dbSNP Id:
rs104894133
ExAC:
9:100447259 G / A
gnomAD v2:
9-100447259-G-A
gnomAD v4:
9-97684977-G-A
PubMed:
PMID:1372102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97684977G>A , CM000671.2:g.97684977G>A | GRCh38 |
| NC_000009.11:g.100447259G>A , CM000671.1:g.100447259G>A | GRCh37 |
| NC_000009.10:g.99487080G>A | NCBI36 |
| NG_011642.1:g.17433C>T , LRG_471:g.17433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.619C>T MANE Select | ENSP00000364270.5:p.Arg207Ter | |
| ENST00000375128.4:c.619C>T | ENSP00000364270.4:p.Arg207Ter | |
| ENST00000462523.5:c.619C>T | ENSP00000433006.1:p.Arg207Ter | |
| ENST00000496104.1:n.413C>T | ||
| NM_000380.3:c.619C>T , LRG_471t1:c.619C>T | NP_000371.1:p.Arg207Ter | |
| NR_027302.1:n.736C>T | ||
| XM_006717278.1:c.619C>T | XP_006717341.1:p.Arg207Ter | |
| XM_011518988.1:c.619C>T | XP_011517290.1:p.Arg207Ter | |
| XR_929839.1:n.730C>T | ||
| NM_001354975.1:c.493C>T | NP_001341904.1:p.Arg165Ter | |
| NR_149091.1:n.464C>T | ||
| NR_149092.1:n.630C>T | ||
| NR_149093.1:n.736C>T | ||
| NR_149094.1:n.630C>T | ||
| NM_000380.4:c.619C>T MANE Select | NP_000371.1:p.Arg207Ter | |
| NM_001354975.2:c.493C>T | NP_001341904.1:p.Arg165Ter | |
| NR_027302.2:n.667C>T | ||
| NR_149091.2:n.395C>T | ||
| NR_149092.2:n.561C>T | ||
| NR_149093.2:n.667C>T | ||
| NR_149094.2:n.561C>T |