Linked Data
ClinVar Variation Id:
1487229
ClinVar RCV Id:
RCV002006307
dbSNP Id:
rs1560870996
gnomAD v4:
4-154744700-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744700A>G , CM000666.2:g.154744700A>G | GRCh38 |
| NC_000004.11:g.155665852A>G , CM000666.1:g.155665852A>G | GRCh37 |
| NC_000004.10:g.155885302A>G | NCBI36 |
| NG_009110.1:g.5690A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.374A>G MANE Select | ENSP00000337224.3:p.Asn125Ser | |
| ENST00000336356.3:c.374A>G | ENSP00000337224.3:p.Asn125Ser | |
| ENST00000499392.1:n.472-3489A>G | ||
| ENST00000507827.5:c.374A>G | ENSP00000426761.1:p.Asn125Ser | |
| ENST00000510733.1:n.701A>G | ||
| NM_001301645.1:c.374A>G | NP_001288574.1:p.Asn125Ser | |
| NM_004744.4:c.374A>G | NP_004735.2:p.Asn125Ser | |
| XM_006714412.2:c.374A>G | XP_006714475.1:p.Asn125Ser | |
| XR_938793.1:n.710A>G | ||
| XR_938793.2:n.706A>G | ||
| NM_004744.5:c.374A>G MANE Select | NP_004735.2:p.Asn125Ser | |
| NM_001301645.2:c.374A>G | NP_001288574.1:p.Asn125Ser |