Linked Data
ClinVar Variation Id:
5640
dbSNP Id:
rs121908520
gnomAD v2:
2-241813412-T-C
gnomAD v3:
2-240873995-T-C
gnomAD v4:
2-240873995-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873995T>C , CM000664.2:g.240873995T>C | GRCh38 |
| NC_000002.11:g.241813412T>C , CM000664.1:g.241813412T>C | GRCh37 |
| NC_000002.10:g.241462085T>C | NCBI36 |
| NG_008005.1:g.10251T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.613T>C MANE Select | ENSP00000302620.3:p.Ser205Pro | |
| ENST00000307503.3:c.613T>C | ENSP00000302620.3:p.Ser205Pro | |
| ENST00000476698.1:n.332+946T>C | ||
| NM_000030.2:c.613T>C | NP_000021.1:p.Ser205Pro | |
| NM_000030.3:c.613T>C MANE Select | NP_000021.1:p.Ser205Pro |