Linked Data
ClinVar Variation Id:
2813
ClinVar RCV Id:
RCV000002947
dbSNP Id:
rs120074159
PubMed:
PMID:12766769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78407804C>G , CM000666.2:g.78407804C>G | GRCh38 |
| NC_000004.11:g.79328958C>G , CM000666.1:g.79328958C>G | GRCh37 |
| NC_000004.10:g.79547982C>G | NCBI36 |
| NG_015812.1:g.355235C>G | |
| NG_015812.2:g.355235C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325942.11:c.4271C>G | ENSP00000326330.6:p.Ser1424Ter | |
| ENST00000682513.1:c.4271C>G | ENSP00000508201.1:p.Ser1424Ter | |
| ENST00000684159.1:c.4271C>G | ENSP00000506875.1:p.Ser1424Ter | |
| ENST00000512123.4:c.4271C>G MANE Select | ENSP00000422834.2:p.Ser1424Ter | |
| ENST00000264899.10:c.845-36299C>G | ENSP00000264899.7:n.845-36299C>G | |
| ENST00000325942.10:c.4271C>G | ENSP00000326330.6:p.Ser1424Ter | |
| ENST00000512123.3:c.4271C>G | ENSP00000422834.2:p.Ser1424Ter | |
| NM_001166133.1:c.4271C>G | NP_001159605.1:p.Ser1424Ter | |
| NM_025074.6:c.4271C>G | NP_079350.5:p.Ser1424Ter | |
| XM_006714314.1:c.4271C>G | XP_006714377.1:p.Ser1424Ter | |
| XM_006714316.1:c.4271C>G | XP_006714379.1:p.Ser1424Ter | |
| XM_011532270.1:c.1970C>G | XP_011530572.1:p.Ser657Ter | |
| XM_006714316.3:c.4271C>G | XP_006714379.1:p.Ser1424Ter | |
| NM_025074.7:c.4271C>G MANE Select | NP_079350.5:p.Ser1424Ter | |
| NM_001166133.2:c.4271C>G | NP_001159605.1:p.Ser1424Ter |