Identifiers and link-outs to other resources
ClinVar Variation Id:
40451
ClinVar RCV Id:
RCV000654936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25245321G>C , CM000674.2:g.25245321G>C | GRCh38 |
| NC_000012.11:g.25398255G>C , CM000674.1:g.25398255G>C | GRCh37 |
| NC_000012.10:g.25289522G>C | NCBI36 |
| NG_007524.1:g.10600C>G | |
| NG_007524.2:g.10683C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_004985.4:c.64C>G VV | NP_004976.2:p.Gln22Glu | |
| NM_033360.3:c.64C>G VV | NP_203524.1:p.Gln22Glu | |
| XM_006719069.2:c.64C>G | XP_006719132.1:p.Gln22Glu | |
| XM_011520653.1:c.64C>G | XP_011518955.1:p.Gln22Glu | |
| XM_006719069.4:c.64C>G | XP_006719132.1:p.Gln22Glu | |
| XM_011520653.3:c.64C>G | XP_011518955.1:p.Gln22Glu | |
| NM_001369786.1:c.64C>G VV | NP_001356715.1:p.Gln22Glu | |
| NM_001369787.1:c.64C>G VV | NP_001356716.1:p.Gln22Glu | |
| NM_004985.5:c.64C>G VV | NP_004976.2:p.Gln22Glu | |
| NM_033360.4:c.64C>G VV MANE Preferred | NP_203524.1:p.Gln22Glu | |
| ENST00000256078.8:c.64C>G | ENSP00000256078.4:p.Gln22Glu | |
| ENST00000311936.7:c.64C>G | ENSP00000308495.3:p.Gln22Glu | |
| ENST00000556131.1:c.64C>G | ENSP00000451856.1:p.Gln22Glu | |
| ENST00000557334.5:c.64C>G | ENSP00000452512.1:p.Gln22Glu |