Linked Data
ClinVar Variation Id:
1061761
dbSNP Id:
rs755590449
ExAC:
3:81754695 T / G
gnomAD v2:
3-81754695-T-G
gnomAD v4:
3-81705544-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705544T>G , CM000665.2:g.81705544T>G | GRCh38 |
| NC_000003.11:g.81754695T>G , CM000665.1:g.81754695T>G | GRCh37 |
| NC_000003.10:g.81837385T>G | NCBI36 |
| NG_011810.1:g.61257A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.213A>C MANE Select | ENSP00000410833.2:p.Arg71Ser | |
| ENST00000429644.6:c.213A>C | ENSP00000410833.2:p.Arg71Ser | |
| ENST00000489715.1:c.90A>C | ENSP00000419638.1:p.Arg30Ser | |
| NM_000158.3:c.213A>C | NP_000149.3:p.Arg71Ser | |
| NM_000158.4:c.213A>C MANE Select | NP_000149.4:p.Arg71Ser |