Linked Data
ClinVar Variation Id:
2174963
ClinVar RCV Id:
RCV002588285
dbSNP Id:
rs139077715
ExAC:
1:27278818 C / T
gnomAD v2:
1-27278818-C-T
gnomAD v3:
1-26952327-C-T
gnomAD v4:
1-26952327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26952327C>T , CM000663.2:g.26952327C>T | GRCh38 |
| NC_000001.10:g.27278818C>T , CM000663.1:g.27278818C>T | GRCh37 |
| NC_000001.9:g.27151405C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320567.6:c.54G>A MANE Select | ENSP00000319179.5:p.Pro18= | |
| ENST00000320567.5:c.54G>A | ENSP00000319179.5:p.Pro18= | |
| ENST00000616918.1:c.54G>A | ENSP00000481107.1:p.Pro18= | |
| NM_152365.2:c.54G>A | NP_689578.2:p.Pro18= | |
| XM_005245735.2:c.54G>A | XP_005245792.1:p.Pro18= | |
| XM_011540622.1:c.54G>A | XP_011538924.1:p.Pro18= | |
| XM_011540622.2:c.54G>A | XP_011538924.1:p.Pro18= | |
| NM_152365.3:c.54G>A MANE Select | NP_689578.2:p.Pro18= |