Linked Data
ClinVar Variation Id:
702447
dbSNP Id:
rs199945820
ExAC:
7:69064827 C / A
gnomAD v2:
7-69064827-C-A
gnomAD v3:
7-69599841-C-A
gnomAD v4:
7-69599841-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.69599841C>A , CM000669.2:g.69599841C>A | GRCh38 |
| NC_000007.13:g.69064827C>A , CM000669.1:g.69064827C>A | GRCh37 |
| NC_000007.12:g.68702763C>A | NCBI36 |
| NG_034133.1:g.5923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.188C>A MANE Select | ENSP00000344087.4:p.Pro63Gln | |
| ENST00000403018.3:c.188C>A | ENSP00000385572.2:p.Pro63Gln | |
| ENST00000644939.1:c.188C>A | ENSP00000496726.1:p.Pro63Gln | |
| ENST00000342771.8:c.188C>A | ENSP00000344087.4:p.Pro63Gln | |
| ENST00000403018.2:c.188C>A | ENSP00000385572.2:p.Pro63Gln | |
| ENST00000406775.6:c.188C>A | ENSP00000385263.2:p.Pro63Gln | |
| NM_001127231.2:c.188C>A | NP_001120703.1:p.Pro63Gln | |
| NM_001127232.2:c.188C>A | NP_001120704.1:p.Pro63Gln | |
| NM_015570.3:c.188C>A | NP_056385.1:p.Pro63Gln | |
| XM_011516010.1:c.188C>A | XP_011514312.1:p.Pro63Gln | |
| XM_011516011.1:c.188C>A | XP_011514313.1:p.Pro63Gln | |
| XM_011516012.1:c.188C>A | XP_011514314.1:p.Pro63Gln | |
| XM_011516013.1:c.188C>A | XP_011514315.1:p.Pro63Gln | |
| XM_011516014.1:c.188C>A | XP_011514316.1:p.Pro63Gln | |
| XM_011516015.1:c.188C>A | XP_011514317.1:p.Pro63Gln | |
| XM_011516010.2:c.188C>A | XP_011514312.1:p.Pro63Gln | |
| XM_011516011.2:c.188C>A | XP_011514313.1:p.Pro63Gln | |
| XM_011516012.2:c.188C>A | XP_011514314.1:p.Pro63Gln | |
| XM_011516013.2:c.188C>A | XP_011514315.1:p.Pro63Gln | |
| XM_011516014.2:c.188C>A | XP_011514316.1:p.Pro63Gln | |
| XM_017011951.2:c.188C>A | XP_016867440.1:p.Pro63Gln | |
| NM_001127231.3:c.188C>A | NP_001120703.1:p.Pro63Gln | |
| NM_001127232.3:c.188C>A | NP_001120704.1:p.Pro63Gln | |
| NM_015570.4:c.188C>A MANE Select | NP_056385.1:p.Pro63Gln |