Linked Data
ClinVar Variation Id:
1044395
ClinVar RCV Id:
RCV001348631
dbSNP Id:
rs752979612
ExAC:
4:187118102 A / G
gnomAD v2:
4-187118102-A-G
gnomAD v3:
4-186196948-A-G
gnomAD v4:
4-186196948-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186196948A>G , CM000666.2:g.186196948A>G | GRCh38 |
| NC_000004.11:g.187118102A>G , CM000666.1:g.187118102A>G | GRCh37 |
| NC_000004.10:g.187355096A>G | NCBI36 |
| NG_007965.1:g.10429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.422A>G MANE Select | ENSP00000368079.4:p.Asn141Ser | |
| ENST00000378802.4:c.422A>G | ENSP00000368079.4:p.Asn141Ser | |
| ENST00000507209.5:n.861A>G | ||
| NM_207352.3:c.422A>G | NP_997235.3:p.Asn141Ser | |
| XM_005262935.2:c.422A>G | XP_005262992.1:p.Asn141Ser | |
| XM_006714184.2:c.26A>G | XP_006714247.1:p.Asn9Ser | |
| XM_005262935.4:c.422A>G | XP_005262992.1:p.Asn141Ser | |
| XM_017008037.1:c.26A>G | XP_016863526.1:p.Asn9Ser | |
| NM_207352.4:c.422A>G MANE Select | NP_997235.3:p.Asn141Ser |