Linked Data
ClinVar Variation Id:
1206063
ClinVar RCV Id:
RCV001573174
dbSNP Id:
rs143676546
ExAC:
6:36652151 A / T
gnomAD v2:
6-36652151-A-T
gnomAD v3:
6-36684374-A-T
gnomAD v4:
6-36684374-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36684374A>T , CM000668.2:g.36684374A>T | GRCh38 |
| NC_000006.11:g.36652151A>T , CM000668.1:g.36652151A>T | GRCh37 |
| NC_000006.10:g.36760129A>T | NCBI36 |
| NG_009364.1:g.10693A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.273A>T MANE Select | ENSP00000244741.6:p.Gly91= | |
| ENST00000244741.9:c.273A>T | ENSP00000244741.5:p.Gly91= | |
| ENST00000373711.3:c.273A>T | ENSP00000362815.1:p.Gly91= | |
| ENST00000405375.5:c.273A>T | ENSP00000384849.1:p.Gly91= | |
| ENST00000448526.6:c.273A>T | ENSP00000409259.3:p.Gly91= | |
| ENST00000459970.1:n.467A>T | ||
| ENST00000478800.1:n.492A>T | ||
| ENST00000615513.4:c.273A>T | ENSP00000482768.1:p.Gly91= | |
| NM_000389.4:c.273A>T | NP_000380.1:p.Gly91= | |
| NM_001220777.1:c.273A>T | NP_001207706.1:p.Gly91= | |
| NM_001220778.1:c.273A>T | NP_001207707.1:p.Gly91= | |
| NM_001291549.1:c.375A>T | NP_001278478.1:p.Gly125= | |
| NM_078467.2:c.273A>T | NP_510867.1:p.Gly91= | |
| NM_000389.5:c.273A>T MANE Select | NP_000380.1:p.Gly91= | |
| NM_001220777.2:c.273A>T | NP_001207706.1:p.Gly91= | |
| NM_001220778.2:c.273A>T | NP_001207707.1:p.Gly91= | |
| NM_001291549.3:c.375A>T | NP_001278478.1:p.Gly125= | |
| NM_001374509.1:c.375A>T | NP_001361438.1:p.Gly125= | |
| NM_001374510.1:c.312A>T | NP_001361439.1:p.Gly104= | |
| NM_001374511.1:c.273A>T | NP_001361440.1:p.Gly91= | |
| NM_001374512.1:c.273A>T | NP_001361441.1:p.Gly91= | |
| NM_001374513.1:c.273A>T | NP_001361442.1:p.Gly91= | |
| NM_078467.3:c.273A>T | NP_510867.1:p.Gly91= |