Linked Data
ClinVar Variation Id:
1038630
ClinVar RCV Id:
RCV001341962
dbSNP Id:
rs34183594
ExAC:
20:6759027 T / C
gnomAD v2:
20-6759027-T-C
gnomAD v3:
20-6778380-T-C
gnomAD v4:
20-6778380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778380T>C , CM000682.2:g.6778380T>C | GRCh38 |
| NC_000020.10:g.6759027T>C , CM000682.1:g.6759027T>C | GRCh37 |
| NC_000020.9:g.6707027T>C | NCBI36 |
| NG_023233.1:g.15283T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.482T>C MANE Select | ENSP00000368104.3:p.Leu161Ser | |
| ENST00000378827.4:c.482T>C | ENSP00000368104.3:p.Leu161Ser | |
| NM_001200.2:c.482T>C | NP_001191.1:p.Leu161Ser | |
| XM_011529323.1:c.14T>C | XP_011527625.1:p.Leu5Ser | |
| NM_001200.3:c.482T>C | NP_001191.1:p.Leu161Ser | |
| NM_001200.4:c.482T>C MANE Select | NP_001191.1:p.Leu161Ser |