Linked Data
ClinVar Variation Id:
1412564
dbSNP Id:
rs72549381
ExAC:
2:38298434 G / A
gnomAD v2:
2-38298434-G-A
gnomAD v3:
2-38071291-G-A
gnomAD v4:
2-38071291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071291G>A , CM000664.2:g.38071291G>A | GRCh38 |
| NC_000002.11:g.38298434G>A , CM000664.1:g.38298434G>A | GRCh37 |
| NC_000002.10:g.38151938G>A | NCBI36 |
| NG_008386.2:g.9811C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.1063C>T | ENSP00000478839.2:p.Arg355Ter | |
| ENST00000610745.5:c.1063C>T MANE Select | ENSP00000478561.1:p.Arg355Ter | |
| ENST00000492443.1:n.441C>T | ||
| ENST00000494864.1:c.-51C>T | ENSP00000479876.1:n.-51C>T | |
| ENST00000610745.4:c.1063C>T | ENSP00000478561.1:p.Arg355Ter | |
| ENST00000613082.1:n.458C>T | ||
| ENST00000614273.1:c.1063C>T | ENSP00000483678.1:p.Arg355Ter | |
| NM_000104.3:c.1063C>T | NP_000095.2:p.Arg355Ter | |
| NM_000104.4:c.1063C>T MANE Select | NP_000095.2:p.Arg355Ter |