Linked Data
gnomAD v3:
22-50720635-G-C
gnomAD v4:
22-50720635-G-C
MyVariant Identifiers:
chr22:g.51159063G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720635G>C , CM000684.2:g.50720635G>C | GRCh38 |
| NC_000022.10:g.51159063G>C , CM000684.1:g.51159063G>C | GRCh37 |
| NC_000022.9:g.49505929G>C | NCBI36 |
| NG_008607.2:g.51281G>C | |
| NG_070230.1:g.56419G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2403G>C | ENSP00000489147.2:p.Leu801= | |
| ENST00000414786.7:n.2987G>C | ||
| ENST00000445220.7:c.1455G>C | ENSP00000489407.2:p.Leu485= | |
| ENST00000664402.2:c.945G>C | ENSP00000499475.1:p.Leu315= | |
| ENST00000673971.2:c.*1401G>C | ENSP00000501192.1:n.*1401G>C | |
| ENST00000445220.6:c.1455G>C | ENSP00000489407.2:p.Leu485= | |
| ENST00000262795.6:c.2403G>C | ENSP00000489147.2:p.Leu801= | |
| ENST00000664402.1:c.945G>C | ENSP00000499475.1:p.Leu315= | |
| ENST00000673971.1:c.*1401G>C | ENSP00000501192.1:n.*1401G>C | |
| ENST00000262795.5:c.2799G>C | ENSP00000489147.1:p.Leu933= | |
| ENST00000414786.6:n.2987G>C | ||
| ENST00000445220.5:c.2781G>C | ENSP00000489407.1:p.Leu927= |