Linked Data
ClinVar Variation Id:
351039
dbSNP Id:
rs774415631
ExAC:
5:13737467 G / A
gnomAD v2:
5-13737467-G-A
gnomAD v3:
5-13737358-G-A
gnomAD v4:
5-13737358-G-A
COSMIC:
COSM3236878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13737358G>A , CM000667.2:g.13737358G>A | GRCh38 |
| NC_000005.9:g.13737467G>A , CM000667.1:g.13737467G>A | GRCh37 |
| NC_000005.8:g.13790467G>A | NCBI36 |
| NG_013081.1:g.212123C>T | |
| NG_013081.2:g.212123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11349C>T MANE Select | ENSP00000265104.4:p.Val3783= | |
| ENST00000681290.1:c.11304C>T | ENSP00000505288.1:p.Val3768= | |
| ENST00000265104.4:c.11349C>T | ENSP00000265104.4:p.Val3783= | |
| NM_001369.2:c.11349C>T | NP_001360.1:p.Val3783= | |
| XM_005248262.2:c.11304C>T | XP_005248319.1:p.Val3768= | |
| XM_005248262.3:c.11457C>T | XP_005248319.2:p.Val3819= | |
| XM_017009177.1:c.11457C>T | XP_016864666.1:p.Val3819= | |
| XM_017009178.1:c.10362C>T | XP_016864667.1:p.Val3454= | |
| XM_017009179.2:c.10362C>T | XP_016864668.1:p.Val3454= | |
| XM_017009180.1:c.11457C>T | XP_016864669.1:p.Val3819= | |
| XM_017009181.1:c.11457C>T | XP_016864670.1:p.Val3819= | |
| XM_017009182.1:c.11320-1426C>T | XP_016864671.1:n.11320-1426C>T | |
| XM_017009185.1:c.6546C>T | XP_016864674.1:p.Val2182= | |
| XM_017009186.1:c.6099C>T | XP_016864675.1:p.Val2033= | |
| XM_017009188.1:c.5436C>T | XP_016864677.1:p.Val1812= | |
| XM_024454388.1:c.10362C>T | XP_024310156.1:p.Val3454= | |
| XM_024454389.1:c.9951C>T | XP_024310157.1:p.Val3317= | |
| NM_001369.3:c.11349C>T MANE Select | NP_001360.1:p.Val3783= |