Linked Data
ClinVar Variation Id:
1098668
ClinVar RCV Id:
RCV001420627
dbSNP Id:
rs1451697093
gnomAD v4:
16-3778088-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778088A>G , CM000678.2:g.3778088A>G | GRCh38 |
| NC_000016.9:g.3828089A>G , CM000678.1:g.3828089A>G | GRCh37 |
| NC_000016.8:g.3768090A>G | NCBI36 |
| NG_009873.1:g.107033T>C | |
| NG_009873.2:g.107626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2036T>C MANE Select | ENSP00000262367.5:p.Leu679Ser | |
| ENST00000262367.9:c.2036T>C | ENSP00000262367.5:p.Leu679Ser | |
| ENST00000382070.7:c.1922T>C | ENSP00000371502.3:p.Leu641Ser | |
| ENST00000570939.2:c.641T>C | ENSP00000461002.2:p.Leu214Ser | |
| ENST00000571826.5:c.85T>C | ||
| ENST00000572134.1:c.349T>C | ||
| ENST00000634839.1:n.198T>C | ||
| NM_001079846.1:c.1922T>C | NP_001073315.1:p.Leu641Ser | |
| NM_004380.2:c.2036T>C | NP_004371.2:p.Leu679Ser | |
| XM_005255124.3:c.2036T>C | XP_005255181.1:p.Leu679Ser | |
| XM_005255125.3:c.2036T>C | XP_005255182.1:p.Leu679Ser | |
| XM_006720848.2:c.2036T>C | XP_006720911.1:p.Leu679Ser | |
| XM_011522380.1:c.1982T>C | XP_011520682.1:p.Leu661Ser | |
| XM_011522381.1:c.1283T>C | XP_011520683.1:p.Leu428Ser | |
| XM_011522382.1:c.2036T>C | XP_011520684.1:p.Leu679Ser | |
| XM_005255124.4:c.2036T>C | XP_005255181.1:p.Leu679Ser | |
| XM_005255125.4:c.2036T>C | XP_005255182.1:p.Leu679Ser | |
| XM_006720848.3:c.2036T>C | XP_006720911.1:p.Leu679Ser | |
| XM_011522381.2:c.1283T>C | XP_011520683.1:p.Leu428Ser | |
| XM_011522382.3:c.2036T>C | XP_011520684.1:p.Leu679Ser | |
| XM_017022944.1:c.2036T>C | XP_016878433.1:p.Leu679Ser | |
| NM_004380.3:c.2036T>C MANE Select | NP_004371.2:p.Leu679Ser |