Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539793G>C , CM000664.2:g.232539793G>C | GRCh38 |
| NC_000002.11:g.233404503G>C , CM000664.1:g.233404503G>C | GRCh37 |
| NC_000002.10:g.233112747G>C | NCBI36 |
| NG_012954.1:g.5067G>C | |
| NG_012954.2:g.5102G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.46G>C MANE Select | ENSP00000498757.1:p.Val16Leu | |
| ENST00000389492.3:c.46G>C | ENSP00000374143.3:p.Val16Leu | |
| ENST00000389494.7:c.46G>C | ENSP00000374145.3:p.Val16Leu | |
| ENST00000485094.1:n.67G>C | ||
| NM_005199.4:c.46G>C | NP_005190.4:p.Val16Leu | |
| NM_005199.5:c.46G>C MANE Select | NP_005190.4:p.Val16Leu |