Linked Data
ClinVar Variation Id:
4718
ClinVar RCV Id:
RCV000004983
dbSNP Id:
rs121908344
PubMed:
PMID:11935341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50079919T>C , CM000684.2:g.50079919T>C | GRCh38 |
| NC_000022.10:g.50518348T>C , CM000684.1:g.50518348T>C | GRCh37 |
| NC_000022.9:g.48860475T>C | NCBI36 |
| NG_009162.1:g.11011A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311597.10:c.422A>G MANE Select | ENSP00000310375.6:p.Asn141Ser | |
| ENST00000311597.9:c.422A>G | ENSP00000310375.5:p.Asn141Ser | |
| ENST00000395876.6:c.422A>G | ENSP00000379216.2:p.Asn141Ser | |
| ENST00000442311.1:c.332A>G | ENSP00000401385.1:p.Asn111Ser | |
| NM_015166.3:c.422A>G | NP_055981.1:p.Asn141Ser | |
| NM_139202.2:c.422A>G | NP_631941.1:p.Asn141Ser | |
| XM_011530678.1:c.422A>G | XP_011528980.1:p.Asn141Ser | |
| XR_430476.2:n.817A>G | ||
| XM_011530678.2:c.422A>G | XP_011528980.1:p.Asn141Ser | |
| XM_017028671.1:c.422A>G | XP_016884160.1:p.Asn141Ser | |
| XR_001755180.2:n.927A>G | ||
| XR_001755181.2:n.695A>G | ||
| NM_001376472.1:c.422A>G | NP_001363401.1:p.Asn141Ser | |
| NM_001376473.1:c.422A>G | NP_001363402.1:p.Asn141Ser | |
| NM_001376474.1:c.422A>G | NP_001363403.1:p.Asn141Ser | |
| NM_001376475.1:c.422A>G | NP_001363404.1:p.Asn141Ser | |
| NM_001376476.1:c.422A>G | NP_001363405.1:p.Asn141Ser | |
| NM_001376477.1:c.422A>G | NP_001363406.1:p.Asn141Ser | |
| NM_001376478.1:c.422A>G | NP_001363407.1:p.Asn141Ser | |
| NM_001376479.1:c.422A>G | NP_001363408.1:p.Asn141Ser | |
| NM_001376480.1:c.332A>G | NP_001363409.1:p.Asn111Ser | |
| NM_001376481.1:c.321+425A>G | NP_001363410.1:n.321+425A>G | |
| NM_001376482.1:c.268-2417A>G | NP_001363411.1:n.268-2417A>G | |
| NM_001376483.1:c.268-2417A>G | NP_001363412.1:n.268-2417A>G | |
| NM_001376484.1:c.185A>G | NP_001363413.1:p.Asn62Ser | |
| NM_015166.4:c.422A>G MANE Select | NP_055981.1:p.Asn141Ser | |
| NM_139202.3:c.422A>G | NP_631941.1:p.Asn141Ser | |
| NR_164811.1:n.769A>G | ||
| NR_164812.1:n.553A>G | ||
| NR_164813.1:n.946A>G |