Linked Data
ClinVar Variation Id:
711102
ClinVar RCV Id:
RCV000882805
dbSNP Id:
rs200235203
ExAC:
14:55034829 C / T
gnomAD v2:
14-55034829-C-T
gnomAD v3:
14-54568111-C-T
gnomAD v4:
14-54568111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54568111C>T , CM000676.2:g.54568111C>T | GRCh38 |
| NC_000014.8:g.55034829C>T , CM000676.1:g.55034829C>T | GRCh37 |
| NC_000014.7:g.54104579C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554335.6:c.195C>T MANE Select | ENSP00000452535.1:p.Pro65= | |
| ENST00000251091.9:c.195C>T | ENSP00000251091.5:p.Pro65= | |
| ENST00000392067.7:c.195C>T | ENSP00000375919.3:p.Pro65= | |
| ENST00000554335.5:c.195C>T | ENSP00000452535.1:p.Pro65= | |
| ENST00000555112.1:n.480C>T | ||
| ENST00000631086.2:c.-769C>T | ENSP00000486821.1:n.-769C>T | |
| NM_001161576.2:c.195C>T | NP_001155048.2:p.Pro65= | |
| NM_015589.5:c.195C>T | NP_056404.4:p.Pro65= | |
| XM_024449514.1:c.195C>T | XP_024305282.1:p.Pro65= | |
| XM_024449515.1:c.195C>T | XP_024305283.1:p.Pro65= | |
| XM_024449516.1:c.195C>T | XP_024305284.1:p.Pro65= | |
| XM_024449517.1:c.195C>T | XP_024305285.1:p.Pro65= | |
| NM_015589.6:c.195C>T MANE Select | NP_056404.4:p.Pro65= |