Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139248G>T , CM000665.2:g.14139248G>T | GRCh38 |
| NC_000003.11:g.14180748G>T , CM000665.1:g.14180748G>T | GRCh37 |
| NC_000003.10:g.14155749G>T | NCBI36 |
| NG_008975.1:g.19309G>T , LRG_435:g.19309G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*981G>T | ENSP00000395617.1:n.*981G>T | |
| ENST00000306077.5:c.951G>T MANE Select | ENSP00000303992.5:p.Met317Ile | |
| ENST00000306077.4:c.951G>T | ENSP00000303992.4:p.Met317Ile | |
| ENST00000601399.3:n.278G>T | ||
| ENST00000608606.1:c.187G>T | ||
| NM_024334.2:c.951G>T , LRG_435t1:c.951G>T | NP_077310.1:p.Met317Ile | |
| XM_011534109.1:c.846G>T | XP_011532411.1:p.Met282Ile | |
| XM_017007176.2:c.846G>T | XP_016862665.1:p.Met282Ile | |
| NM_024334.3:c.951G>T MANE Select | NP_077310.1:p.Met317Ile |