Linked Data
dbSNP Id:
rs2118443066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794482A>T , CM000671.2:g.77794482A>T | GRCh38 |
| NC_000009.11:g.80409398A>T , CM000671.1:g.80409398A>T | GRCh37 |
| NC_000009.10:g.79599218A>T | NCBI36 |
| NG_027904.2:g.241822T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.716T>A MANE Select | ENSP00000286548.4:p.Leu239His | |
| ENST00000286548.8:c.716T>A | ENSP00000286548.4:p.Leu239His | |
| NM_002072.4:c.716T>A | NP_002063.2:p.Leu239His | |
| XM_017014628.2:c.542T>A | XP_016870117.1:p.Leu181His | |
| NM_002072.5:c.716T>A MANE Select | NP_002063.2:p.Leu239His |