Linked Data
ClinVar Variation Id:
2240583
ClinVar RCV Id:
RCV002766988
dbSNP Id:
rs1754133509
gnomAD v4:
5-159323329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323329A>G , CM000667.2:g.159323329A>G | GRCh38 |
| NC_000005.9:g.158750337A>G , CM000667.1:g.158750337A>G | GRCh37 |
| NC_000005.8:g.158682915A>G | NCBI36 |
| NG_009618.1:g.12145T>C , LRG_71:g.12145T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2809T>C | ENSP00000512849.1:n.-148-2809T>C | |
| ENST00000696751.1:c.89T>C | ENSP00000512850.1:p.Val30Ala | |
| ENST00000231228.3:c.89T>C MANE Select | ENSP00000231228.2:p.Val30Ala | |
| ENST00000231228.2:c.89T>C | ENSP00000231228.2:p.Val30Ala | |
| NM_002187.2:c.89T>C , LRG_71t1:c.89T>C | NP_002178.2:p.Val30Ala | |
| XR_001742945.1:n.148-2205A>G | ||
| NM_002187.3:c.89T>C MANE Select | NP_002178.2:p.Val30Ala |