Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113060870G>C , CM000664.2:g.113060870G>C | GRCh38 |
| NC_000002.11:g.113818447G>C , CM000664.1:g.113818447G>C | GRCh37 |
| NC_000002.10:g.113534918G>C | NCBI36 |
| NG_031864.1:g.7233G>C , LRG_730:g.7233G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.48G>C | ENSP00000409262.2:p.Leu16Phe | |
| ENST00000393200.7:c.48G>C MANE Select | ENSP00000376896.2:p.Leu16Phe | |
| ENST00000346807.7:c.48G>C | ENSP00000259212.3:p.Leu16Phe | |
| ENST00000393200.6:c.48G>C | ENSP00000376896.2:p.Leu16Phe | |
| ENST00000437409.1:c.48G>C | ENSP00000409262.1:p.Leu16Phe | |
| NM_012275.2:c.48G>C , LRG_730t2:c.48G>C | NP_036407.1:p.Leu16Phe | |
| NM_173170.1:c.48G>C , LRG_730t1:c.48G>C | NP_775262.1:p.Leu16Phe | |
| NM_012275.3:c.48G>C MANE Select | NP_036407.1:p.Leu16Phe |