Linked Data
ClinVar Variation Id:
414096
ClinVar RCV Id:
RCV002525652
dbSNP Id:
rs746145300
ExAC:
1:245027322 G / A
gnomAD v2:
1-245027322-G-A
gnomAD v3:
1-244864020-G-A
gnomAD v4:
1-244864020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864020G>A , CM000663.2:g.244864020G>A | GRCh38 |
| NC_000001.10:g.245027322G>A , CM000663.1:g.245027322G>A | GRCh37 |
| NC_000001.9:g.243093945G>A | NCBI36 |
| NG_042184.1:g.5506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.288C>T | ENSP00000283179.10:p.Ile96= | |
| ENST00000444376.7:c.288C>T | ENSP00000393151.2:p.Ile96= | |
| ENST00000476241.2:n.473C>T | ||
| ENST00000638475.1:c.72C>T | ENSP00000491305.1:p.Ile24= | |
| ENST00000638952.1:n.519C>T | ||
| ENST00000640218.2:c.288C>T MANE Select | ENSP00000491215.1:p.Ile96= | |
| ENST00000640306.1:c.288C>T | ENSP00000491685.1:p.Ile96= | |
| ENST00000649899.1:n.512C>T | ||
| ENST00000283179.13:c.288C>T | ENSP00000283179.9:p.Ile96= | |
| ENST00000444376.6:c.288C>T | ENSP00000393151.2:p.Ile96= | |
| ENST00000476241.1:n.472C>T | ||
| NM_004501.3:c.288C>T | NP_004492.2:p.Ile96= | |
| NM_031844.2:c.288C>T | NP_114032.2:p.Ile96= | |
| NM_031844.3:c.288C>T MANE Select | NP_114032.2:p.Ile96= |