Linked Data
ClinVar Variation Id:
1103298
ClinVar RCV Id:
RCV001426913
dbSNP Id:
rs200901816
COSMIC:
COSM6270788
MyVariant Identifiers:
chr5:g.13701398G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701289G>T , CM000667.2:g.13701289G>T | GRCh38 |
| NC_000005.9:g.13701398G>T , CM000667.1:g.13701398G>T | GRCh37 |
| NC_000005.8:g.13754398G>T | NCBI36 |
| NG_013081.1:g.248192C>A | |
| NG_013081.2:g.248192C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683611.1:n.819C>A | ||
| ENST00000265104.5:c.13486C>A MANE Select | ENSP00000265104.4:p.Arg4496= | |
| ENST00000681290.1:c.13441C>A | ENSP00000505288.1:p.Arg4481= | |
| ENST00000265104.4:c.13486C>A | ENSP00000265104.4:p.Arg4496= | |
| NM_001369.2:c.13486C>A | NP_001360.1:p.Arg4496= | |
| XM_005248262.2:c.13441C>A | XP_005248319.1:p.Arg4481= | |
| XM_005248262.3:c.13594C>A | XP_005248319.2:p.Arg4532= | |
| XM_017009177.1:c.13174C>A | XP_016864666.1:p.Arg4392= | |
| XM_017009178.1:c.12499C>A | XP_016864667.1:p.Arg4167= | |
| XM_017009179.2:c.12499C>A | XP_016864668.1:p.Arg4167= | |
| XM_017009185.1:c.8683C>A | XP_016864674.1:p.Arg2895= | |
| XM_017009186.1:c.8236C>A | XP_016864675.1:p.Arg2746= | |
| XM_017009188.1:c.7573C>A | XP_016864677.1:p.Arg2525= | |
| XM_024454388.1:c.12499C>A | XP_024310156.1:p.Arg4167= | |
| XM_024454389.1:c.12088C>A | XP_024310157.1:p.Arg4030= | |
| NM_001369.3:c.13486C>A MANE Select | NP_001360.1:p.Arg4496= |