Linked Data
ClinVar Variation Id:
1037703
ClinVar RCV Id:
RCV001340896
dbSNP Id:
rs1754132833
gnomAD v3:
5-159323301-C-T
gnomAD v4:
5-159323301-C-T
MyVariant Identifiers:
chr5:g.158750309C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323301C>T , CM000667.2:g.159323301C>T | GRCh38 |
| NC_000005.9:g.158750309C>T , CM000667.1:g.158750309C>T | GRCh37 |
| NC_000005.8:g.158682887C>T | NCBI36 |
| NG_009618.1:g.12173G>A , LRG_71:g.12173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2781G>A | ENSP00000512849.1:n.-148-2781G>A | |
| ENST00000696751.1:c.117G>A | ENSP00000512850.1:p.Pro39= | |
| ENST00000231228.3:c.117G>A MANE Select | ENSP00000231228.2:p.Pro39= | |
| ENST00000231228.2:c.117G>A | ENSP00000231228.2:p.Pro39= | |
| NM_002187.2:c.117G>A , LRG_71t1:c.117G>A | NP_002178.2:p.Pro39= | |
| XR_001742945.1:n.148-2233C>T | ||
| NM_002187.3:c.117G>A MANE Select | NP_002178.2:p.Pro39= |