MyVariant.info:
GRCh37
chr16:g.30762916G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30751595G>C , CM000678.2:g.30751595G>C | GRCh38 |
| NC_000016.9:g.30762916G>C , CM000678.1:g.30762916G>C | GRCh37 |
| NC_000016.8:g.30670417G>C | NCBI36 |
| NG_016616.1:g.8297G>C | |
| NG_016616.2:g.8297G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.318G>C MANE Select | ENSP00000455607.1:p.Val106= | |
| ENST00000328273.11:c.318G>C | ENSP00000329968.7:p.Val106= | |
| ENST00000424889.7:c.318G>C | ENSP00000388571.3:p.Val106= | |
| ENST00000563588.5:c.318G>C | ENSP00000455607.1:p.Val106= | |
| ENST00000563607.1:c.254G>C | ENSP00000454641.1:p.Cys85Ser | |
| ENST00000563913.5:n.651G>C | ||
| ENST00000564838.5:n.692G>C | ||
| ENST00000565897.5:c.318G>C | ENSP00000457359.1:p.Val106= | |
| ENST00000565924.5:c.318G>C | ENSP00000455091.1:p.Val106= | |
| ENST00000569762.1:n.562G>C | ||
| NM_000294.2:c.318G>C | NP_000285.1:p.Val106= | |
| NM_001172432.1:c.318G>C | NP_001165903.1:p.Val106= | |
| NM_000294.3:c.318G>C MANE Select | NP_000285.1:p.Val106= | |
| NM_001172432.2:c.318G>C | NP_001165903.1:p.Val106= |