Linked Data
ClinVar Variation Id:
851876
ClinVar RCV Id:
RCV001056375
dbSNP Id:
rs1754064448
gnomAD v4:
5-159320329-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320329C>A , CM000667.2:g.159320329C>A | GRCh38 |
| NC_000005.9:g.158747337C>A , CM000667.1:g.158747337C>A | GRCh37 |
| NC_000005.8:g.158679915C>A | NCBI36 |
| NG_009618.1:g.15145G>T , LRG_71:g.15145G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.44G>T | ENSP00000512849.1:p.Ser15Ile | |
| ENST00000696751.1:c.*169G>T | ENSP00000512850.1:n.*169G>T | |
| ENST00000231228.3:c.674G>T MANE Select | ENSP00000231228.2:p.Ser225Ile | |
| ENST00000231228.2:c.674G>T | ENSP00000231228.2:p.Ser225Ile | |
| NM_002187.2:c.674G>T , LRG_71t1:c.674G>T | NP_002178.2:p.Ser225Ile | |
| NM_002187.3:c.674G>T MANE Select | NP_002178.2:p.Ser225Ile |