Linked Data
ClinVar Variation Id:
1203626
ClinVar RCV Id:
RCV001569732
dbSNP Id:
rs1485738472
gnomAD v2:
14-29237728-A-G
gnomAD v3:
14-28768522-A-G
gnomAD v4:
14-28768522-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768522A>G , CM000676.2:g.28768522A>G | GRCh38 |
| NC_000014.8:g.29237728A>G , CM000676.1:g.29237728A>G | GRCh37 |
| NC_000014.7:g.28307479A>G | NCBI36 |
| NG_009367.1:g.6442A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1243A>G | ENSP00000516406.1:p.Ser415Gly | |
| ENST00000313071.7:c.1243A>G MANE Select | ENSP00000339004.3:p.Ser415Gly | |
| ENST00000313071.6:c.1243A>G | ENSP00000339004.3:p.Ser415Gly | |
| NM_005249.4:c.1243A>G | NP_005240.3:p.Ser415Gly | |
| NM_005249.5:c.1243A>G MANE Select | NP_005240.3:p.Ser415Gly |