Linked Data
ClinVar Variation Id:
7482
ClinVar RCV Id:
RCV000007910
dbSNP Id:
rs28939681
gnomAD v2:
7-75933160-C-T
gnomAD v3:
7-76303843-C-T
gnomAD v4:
7-76303843-C-T
MyVariant Identifiers:
chr7:g.75933160C>T (hg19)
chr7:g.75933160_75933161delinsTG (hg19)
chr7:g.76303843C>T (hg38)
chr7:g.76303843_76303844delinsTG (hg38)
PubMed:
PMID:15122254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303843C>T , CM000669.2:g.76303843C>T | GRCh38 |
| NC_000007.13:g.75933160C>T , CM000669.1:g.75933160C>T | GRCh37 |
| NC_000007.12:g.75771096C>T | NCBI36 |
| NG_008995.1:g.6286C>T , LRG_248:g.6286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.406C>T MANE Select | ENSP00000248553.6:p.Arg136Trp | |
| ENST00000674547.1:c.406C>T | ENSP00000502461.1:p.Arg136Trp | |
| ENST00000674638.1:c.401C>T | ENSP00000502651.1:p.Pro134Leu | |
| ENST00000674650.1:c.365-141C>T | ENSP00000501628.1:n.365-141C>T | |
| ENST00000674965.1:c.*62C>T | ENSP00000501765.1:n.*62C>T | |
| ENST00000675134.1:c.406C>T | ENSP00000501831.1:p.Arg136Trp | |
| ENST00000675226.1:c.405C>T | ENSP00000502510.1:p.Pro135= | |
| ENST00000675417.1:n.639C>T | ||
| ENST00000675538.1:c.441C>T | ENSP00000502495.1:p.Pro147= | |
| ENST00000675906.1:c.406C>T | ENSP00000502714.1:p.Arg136Trp | |
| ENST00000676195.1:n.122C>T | ||
| ENST00000676231.1:c.436C>T | ENSP00000502249.1:p.Arg146Trp | |
| ENST00000248553.6:c.406C>T | ENSP00000248553.6:p.Arg136Trp | |
| ENST00000429938.1:c.-99C>T | ENSP00000405285.1:n.-99C>T | |
| ENST00000447574.1:c.*570C>T | ENSP00000414357.1:n.*570C>T | |
| NM_001540.3:c.406C>T , LRG_248t1:c.406C>T | NP_001531.1:p.Arg136Trp | |
| NM_001540.4:c.406C>T | NP_001531.1:p.Arg136Trp | |
| NM_001540.5:c.406C>T MANE Select | NP_001531.1:p.Arg136Trp |