Linked Data
ClinVar Variation Id:
2415388
dbSNP Id:
rs371478505
ExAC:
1:204124205 C / T
gnomAD v2:
1-204124205-C-T
gnomAD v3:
1-204155077-C-T
gnomAD v4:
1-204155077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204155077C>T , CM000663.2:g.204155077C>T | GRCh38 |
| NC_000001.10:g.204124205C>T , CM000663.1:g.204124205C>T | GRCh37 |
| NC_000001.9:g.202390828C>T | NCBI36 |
| NG_012122.1:g.16261G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.1160G>A MANE Select | ENSP00000272190.8:p.Arg387Gln | |
| ENST00000638118.1:c.1046G>A | ENSP00000490307.1:p.Arg349Gln | |
| ENST00000272190.8:c.1160G>A | ENSP00000272190.8:p.Arg387Gln | |
| NM_000537.3:c.1160G>A | NP_000528.1:p.Arg387Gln | |
| NM_000537.4:c.1160G>A MANE Select | NP_000528.1:p.Arg387Gln |