MyVariant.info:
GRCh37
chr1:g.218609452C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218436110C>A , CM000663.2:g.218436110C>A | GRCh38 |
| NC_000001.10:g.218609452C>A , CM000663.1:g.218609452C>A | GRCh37 |
| NC_000001.9:g.216676075C>A | NCBI36 |
| NG_027721.1:g.95777C>A | |
| NG_027721.2:g.95777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.895C>A MANE Select | ENSP00000355897.4:p.Arg299= | |
| ENST00000366929.4:c.979C>A | ENSP00000355896.4:p.Arg327= | |
| ENST00000366930.8:c.895C>A | ENSP00000355897.4:p.Arg299= | |
| ENST00000479322.1:n.379C>A | ||
| NM_001135599.2:c.979C>A | NP_001129071.1:p.Arg327= | |
| NM_003238.3:c.895C>A | NP_003229.1:p.Arg299= | |
| NM_001135599.3:c.979C>A | NP_001129071.1:p.Arg327= | |
| NM_003238.4:c.895C>A | NP_003229.1:p.Arg299= | |
| NR_138148.1:n.2198C>A | ||
| NR_138149.1:n.2282C>A | ||
| NM_003238.5:c.895C>A | NP_003229.1:p.Arg299= | |
| NM_003238.6:c.895C>A MANE Select | NP_003229.1:p.Arg299= | |
| NM_001135599.4:c.979C>A | NP_001129071.1:p.Arg327= | |
| NR_138148.2:n.2146C>A | ||
| NR_138149.2:n.2230C>A |