Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139246A>C , CM000665.2:g.14139246A>C | GRCh38 |
| NC_000003.11:g.14180746A>C , CM000665.1:g.14180746A>C | GRCh37 |
| NC_000003.10:g.14155747A>C | NCBI36 |
| NG_008975.1:g.19307A>C , LRG_435:g.19307A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*979A>C | ENSP00000395617.1:n.*979A>C | |
| ENST00000306077.5:c.949A>C MANE Select | ENSP00000303992.5:p.Met317Leu | |
| ENST00000306077.4:c.949A>C | ENSP00000303992.4:p.Met317Leu | |
| ENST00000601399.3:n.276A>C | ||
| ENST00000608606.1:c.185A>C | ||
| NM_024334.2:c.949A>C , LRG_435t1:c.949A>C | NP_077310.1:p.Met317Leu | |
| XM_011534109.1:c.844A>C | XP_011532411.1:p.Met282Leu | |
| XM_017007176.2:c.844A>C | XP_016862665.1:p.Met282Leu | |
| NM_024334.3:c.949A>C MANE Select | NP_077310.1:p.Met317Leu |