Linked Data
ClinVar Variation Id:
337523
dbSNP Id:
rs61753580
ExAC:
2:96940792 G / A
gnomAD v2:
2-96940792-G-A
gnomAD v3:
2-96275054-G-A
gnomAD v4:
2-96275054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96275054G>A , CM000664.2:g.96275054G>A | GRCh38 |
| NC_000002.11:g.96940792G>A , CM000664.1:g.96940792G>A | GRCh37 |
| NC_000002.10:g.96304519G>A | NCBI36 |
| NG_016973.1:g.35506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.6369C>T MANE Select | ENSP00000317123.5:p.Ser2123= | |
| ENST00000323853.9:c.6369C>T | ENSP00000317123.5:p.Ser2123= | |
| ENST00000429650.1:c.*424C>T | ENSP00000387870.1:n.*424C>T | |
| ENST00000497539.5:n.2343C>T | ||
| NM_014014.4:c.6369C>T | NP_054733.2:p.Ser2123= | |
| NM_014014.5:c.6369C>T MANE Select | NP_054733.2:p.Ser2123= |