Linked Data
ClinVar Variation Id:
1409166
ClinVar RCV Id:
RCV001913499
dbSNP Id:
rs1283020139
gnomAD v3:
1-11965480-G-A
gnomAD v4:
1-11965480-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965480G>A , CM000663.2:g.11965480G>A | GRCh38 |
| NC_000001.10:g.12025537G>A , CM000663.1:g.12025537G>A | GRCh37 |
| NC_000001.9:g.11948124G>A | NCBI36 |
| NG_008159.1:g.35792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1471G>A MANE Select | ENSP00000196061.4:p.Asp491Asn | |
| ENST00000196061.4:c.1471G>A | ENSP00000196061.4:p.Asp491Asn | |
| ENST00000470133.1:n.85G>A | ||
| ENST00000491536.5:n.99G>A | ||
| NM_000302.3:c.1471G>A | NP_000293.2:p.Asp491Asn | |
| NM_001316320.1:c.1612G>A | NP_001303249.1:p.Asp538Asn | |
| XM_011541594.1:c.1552G>A | XP_011539896.1:p.Asp518Asn | |
| XM_024447707.1:c.805G>A | XP_024303475.1:p.Asp269Asn | |
| NM_000302.4:c.1471G>A MANE Select | NP_000293.2:p.Asp491Asn | |
| NM_001316320.2:c.1612G>A | NP_001303249.1:p.Asp538Asn |