Linked Data
dbSNP Id:
rs2118443594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794519T>A , CM000671.2:g.77794519T>A | GRCh38 |
| NC_000009.11:g.80409435T>A , CM000671.1:g.80409435T>A | GRCh37 |
| NC_000009.10:g.79599255T>A | NCBI36 |
| NG_027904.2:g.241785A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.679A>T MANE Select | ENSP00000286548.4:p.Met227Leu | |
| ENST00000286548.8:c.679A>T | ENSP00000286548.4:p.Met227Leu | |
| NM_002072.4:c.679A>T | NP_002063.2:p.Met227Leu | |
| XM_017014628.2:c.505A>T | XP_016870117.1:p.Met169Leu | |
| NM_002072.5:c.679A>T MANE Select | NP_002063.2:p.Met227Leu |