Linked Data
ClinVar Variation Id:
454744
dbSNP Id:
rs141828476
ExAC:
5:13701436 G / A
gnomAD v2:
5-13701436-G-A
gnomAD v3:
5-13701327-G-A
gnomAD v4:
5-13701327-G-A
COSMIC:
COSM1433336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701327G>A , CM000667.2:g.13701327G>A | GRCh38 |
| NC_000005.9:g.13701436G>A , CM000667.1:g.13701436G>A | GRCh37 |
| NC_000005.8:g.13754436G>A | NCBI36 |
| NG_013081.1:g.248154C>T | |
| NG_013081.2:g.248154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.781C>T | ||
| ENST00000265104.5:c.13448C>T MANE Select | ENSP00000265104.4:p.Thr4483Met | |
| ENST00000681290.1:c.13403C>T | ENSP00000505288.1:p.Thr4468Met | |
| ENST00000265104.4:c.13448C>T | ENSP00000265104.4:p.Thr4483Met | |
| NM_001369.2:c.13448C>T | NP_001360.1:p.Thr4483Met | |
| XM_005248262.2:c.13403C>T | XP_005248319.1:p.Thr4468Met | |
| XM_005248262.3:c.13556C>T | XP_005248319.2:p.Thr4519Met | |
| XM_017009177.1:c.13136C>T | XP_016864666.1:p.Thr4379Met | |
| XM_017009178.1:c.12461C>T | XP_016864667.1:p.Thr4154Met | |
| XM_017009179.2:c.12461C>T | XP_016864668.1:p.Thr4154Met | |
| XM_017009185.1:c.8645C>T | XP_016864674.1:p.Thr2882Met | |
| XM_017009186.1:c.8198C>T | XP_016864675.1:p.Thr2733Met | |
| XM_017009188.1:c.7535C>T | XP_016864677.1:p.Thr2512Met | |
| XM_024454388.1:c.12461C>T | XP_024310156.1:p.Thr4154Met | |
| XM_024454389.1:c.12050C>T | XP_024310157.1:p.Thr4017Met | |
| NM_001369.3:c.13448C>T MANE Select | NP_001360.1:p.Thr4483Met |