Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139215G>T , CM000665.2:g.14139215G>T | GRCh38 |
| NC_000003.11:g.14180715G>T , CM000665.1:g.14180715G>T | GRCh37 |
| NC_000003.10:g.14155716G>T | NCBI36 |
| NG_008975.1:g.19276G>T , LRG_435:g.19276G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*948G>T | ENSP00000395617.1:n.*948G>T | |
| ENST00000306077.5:c.918G>T MANE Select | ENSP00000303992.5:p.Met306Ile | |
| ENST00000306077.4:c.918G>T | ENSP00000303992.4:p.Met306Ile | |
| ENST00000601399.3:n.245G>T | ||
| ENST00000608606.1:c.154G>T | ||
| NM_024334.2:c.918G>T , LRG_435t1:c.918G>T | NP_077310.1:p.Met306Ile | |
| XM_011534109.1:c.813G>T | XP_011532411.1:p.Met271Ile | |
| XM_017007176.2:c.813G>T | XP_016862665.1:p.Met271Ile | |
| NM_024334.3:c.918G>T MANE Select | NP_077310.1:p.Met306Ile |