Linked Data
ClinVar Variation Id:
2488237
ClinVar RCV Id:
RCV003217355
dbSNP Id:
rs1298538835
gnomAD v2:
6-35782364-T-G
gnomAD v3:
6-35814587-T-G
gnomAD v4:
6-35814587-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814587T>G , CM000668.2:g.35814587T>G | GRCh38 |
| NC_000006.11:g.35782364T>G , CM000668.1:g.35782364T>G | GRCh37 |
| NC_000006.10:g.35890342T>G | NCBI36 |
| NG_012184.1:g.14294T>G | |
| NG_012184.2:g.14294T>G | |
| NG_012184.3:g.22382T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.454T>G MANE Select | ENSP00000353346.1:p.Trp152Gly | |
| ENST00000496656.2:n.233T>G | ||
| ENST00000651132.1:c.454T>G | ENSP00000498322.1:p.Trp152Gly | |
| ENST00000651676.1:c.454T>G | ENSP00000498699.1:p.Trp152Gly | |
| ENST00000651994.1:c.*70-4850T>G | ENSP00000498310.1:n.*70-4850T>G | |
| ENST00000652718.1:c.286T>G | ENSP00000498866.1:p.Trp96Gly | |
| ENST00000360215.2:c.454T>G | ENSP00000353346.1:p.Trp152Gly | |
| ENST00000496656.1:n.233T>G | ||
| NM_182548.3:c.454T>G | NP_872354.1:p.Trp152Gly | |
| XM_011514403.1:c.454T>G | XP_011512705.1:p.Trp152Gly | |
| NM_182548.4:c.454T>G MANE Select | NP_872354.1:p.Trp152Gly |