Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827216G>C , CM000667.2:g.148827216G>C | GRCh38 |
| NC_000005.9:g.148206779G>C , CM000667.1:g.148206779G>C | GRCh37 |
| NC_000005.8:g.148186972G>C | NCBI36 |
| NG_016421.1:g.5624G>C | |
| NG_016421.2:g.5624G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.385G>C MANE Select | ENSP00000305372.4:p.Val129Leu | |
| ENST00000305988.5:c.385G>C | ENSP00000305372.4:p.Val129Leu | |
| NM_000024.5:c.385G>C | NP_000015.1:p.Val129Leu | |
| NM_000024.6:c.385G>C MANE Select | NP_000015.2:p.Val129Leu |