MyVariant.info:
GRCh37
chr3:g.16639605A>C
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16598098A>C , CM000665.2:g.16598098A>C | GRCh38 |
| NC_000003.11:g.16639605A>C , CM000665.1:g.16639605A>C | GRCh37 |
| NC_000003.10:g.16614609A>C | NCBI36 |
| NG_023329.1:g.12402T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399444.7:c.231T>G MANE Select | ENSP00000382373.3:p.Gly77= | |
| ENST00000250863.12:c.291T>G | ENSP00000250863.8:p.Gly97= | |
| ENST00000399444.6:c.231T>G | ENSP00000382373.2:p.Gly77= | |
| ENST00000454457.1:c.345T>G | ENSP00000398109.1:p.Gly115= | |
| NM_001190811.1:c.291T>G | NP_001177740.1:p.Gly97= | |
| NM_001351.3:c.231T>G | NP_001342.2:p.Gly77= | |
| NM_001351.4:c.231T>G MANE Select | NP_001342.2:p.Gly77= | |
| NM_001190811.2:c.291T>G | NP_001177740.1:p.Gly97= |