Linked Data
dbSNP Id:
rs1028477737
gnomAD v2:
6-36651997-G-T
gnomAD v3:
6-36684220-G-T
gnomAD v4:
6-36684220-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36684220G>T , CM000668.2:g.36684220G>T | GRCh38 |
| NC_000006.11:g.36651997G>T , CM000668.1:g.36651997G>T | GRCh37 |
| NC_000006.10:g.36759975G>T | NCBI36 |
| NG_009364.1:g.10539G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.119G>T MANE Select | ENSP00000244741.6:p.Gly40Val | |
| ENST00000244741.9:c.119G>T | ENSP00000244741.5:p.Gly40Val | |
| ENST00000373711.3:c.119G>T | ENSP00000362815.1:p.Gly40Val | |
| ENST00000405375.5:c.119G>T | ENSP00000384849.1:p.Gly40Val | |
| ENST00000448526.6:c.119G>T | ENSP00000409259.3:p.Gly40Val | |
| ENST00000459970.1:n.313G>T | ||
| ENST00000478800.1:n.338G>T | ||
| ENST00000615513.4:c.119G>T | ENSP00000482768.1:p.Gly40Val | |
| NM_000389.4:c.119G>T | NP_000380.1:p.Gly40Val | |
| NM_001220777.1:c.119G>T | NP_001207706.1:p.Gly40Val | |
| NM_001220778.1:c.119G>T | NP_001207707.1:p.Gly40Val | |
| NM_001291549.1:c.221G>T | NP_001278478.1:p.Gly74Val | |
| NM_078467.2:c.119G>T | NP_510867.1:p.Gly40Val | |
| NM_000389.5:c.119G>T MANE Select | NP_000380.1:p.Gly40Val | |
| NM_001220777.2:c.119G>T | NP_001207706.1:p.Gly40Val | |
| NM_001220778.2:c.119G>T | NP_001207707.1:p.Gly40Val | |
| NM_001291549.3:c.221G>T | NP_001278478.1:p.Gly74Val | |
| NM_001374509.1:c.221G>T | NP_001361438.1:p.Gly74Val | |
| NM_001374510.1:c.158G>T | NP_001361439.1:p.Gly53Val | |
| NM_001374511.1:c.119G>T | NP_001361440.1:p.Gly40Val | |
| NM_001374512.1:c.119G>T | NP_001361441.1:p.Gly40Val | |
| NM_001374513.1:c.119G>T | NP_001361442.1:p.Gly40Val | |
| NM_078467.3:c.119G>T | NP_510867.1:p.Gly40Val |