Linked Data
ClinVar Variation Id:
407211
ClinVar RCV Id:
RCV000472031
dbSNP Id:
rs139357559
ExAC:
5:13708343 G / T
gnomAD v2:
5-13708343-G-T
gnomAD v3:
5-13708234-G-T
gnomAD v4:
5-13708234-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708234G>T , CM000667.2:g.13708234G>T | GRCh38 |
| NC_000005.9:g.13708343G>T , CM000667.1:g.13708343G>T | GRCh37 |
| NC_000005.8:g.13761343G>T | NCBI36 |
| NG_013081.1:g.241247C>A | |
| NG_013081.2:g.241247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.560C>A | ||
| ENST00000265104.5:c.13227C>A MANE Select | ENSP00000265104.4:p.Ser4409Arg | |
| ENST00000681290.1:c.13182C>A | ENSP00000505288.1:p.Ser4394Arg | |
| ENST00000265104.4:c.13227C>A | ENSP00000265104.4:p.Ser4409Arg | |
| NM_001369.2:c.13227C>A | NP_001360.1:p.Ser4409Arg | |
| XM_005248262.2:c.13182C>A | XP_005248319.1:p.Ser4394Arg | |
| XM_005248262.3:c.13335C>A | XP_005248319.2:p.Ser4445Arg | |
| XM_017009177.1:c.12915C>A | XP_016864666.1:p.Ser4305Arg | |
| XM_017009178.1:c.12240C>A | XP_016864667.1:p.Ser4080Arg | |
| XM_017009179.2:c.12240C>A | XP_016864668.1:p.Ser4080Arg | |
| XM_017009185.1:c.8424C>A | XP_016864674.1:p.Ser2808Arg | |
| XM_017009186.1:c.7977C>A | XP_016864675.1:p.Ser2659Arg | |
| XM_017009188.1:c.7314C>A | XP_016864677.1:p.Ser2438Arg | |
| XM_024454388.1:c.12240C>A | XP_024310156.1:p.Ser4080Arg | |
| XM_024454389.1:c.11829C>A | XP_024310157.1:p.Ser3943Arg | |
| NM_001369.3:c.13227C>A MANE Select | NP_001360.1:p.Ser4409Arg |