Linked Data
dbSNP Id:
rs2118444205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794564C>G , CM000671.2:g.77794564C>G | GRCh38 |
| NC_000009.11:g.80409480C>G , CM000671.1:g.80409480C>G | GRCh37 |
| NC_000009.10:g.79599300C>G | NCBI36 |
| NG_027904.2:g.241740G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.634G>C MANE Select | ENSP00000286548.4:p.Glu212Gln | |
| ENST00000286548.8:c.634G>C | ENSP00000286548.4:p.Glu212Gln | |
| NM_002072.4:c.634G>C | NP_002063.2:p.Glu212Gln | |
| XM_017014628.2:c.460G>C | XP_016870117.1:p.Glu154Gln | |
| NM_002072.5:c.634G>C MANE Select | NP_002063.2:p.Glu212Gln |