Linked Data
ClinVar Variation Id:
780766
dbSNP Id:
rs138501451
ExAC:
1:36492880 G / A
gnomAD v2:
1-36492880-G-A
gnomAD v3:
1-36027279-G-A
gnomAD v4:
1-36027279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36027279G>A , CM000663.2:g.36027279G>A | GRCh38 |
| NC_000001.10:g.36492880G>A , CM000663.1:g.36492880G>A | GRCh37 |
| NC_000001.9:g.36265467G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373191.9:c.1572G>A MANE Select | ENSP00000362287.3:p.Pro524= | |
| ENST00000246314.10:c.870G>A | ENSP00000246314.6:p.Pro290= | |
| ENST00000373191.8:c.1572G>A | ENSP00000362287.3:p.Pro524= | |
| ENST00000634486.1:c.*1567G>A | ENSP00000489286.1:n.*1567G>A | |
| NM_024852.3:c.1572G>A | NP_079128.2:p.Pro524= | |
| NM_177422.2:c.870G>A | NP_803171.1:p.Pro290= | |
| XM_005270575.2:c.1572G>A | XP_005270632.1:p.Pro524= | |
| XM_005270576.2:c.747G>A | XP_005270633.1:p.Pro249= | |
| XM_011540879.1:c.1527G>A | XP_011539181.1:p.Pro509= | |
| XM_011540880.1:c.1527G>A | XP_011539182.1:p.Pro509= | |
| XM_011540881.1:c.1365G>A | XP_011539183.1:p.Pro455= | |
| XM_011540882.1:c.870G>A | XP_011539184.1:p.Pro290= | |
| XM_005270575.4:c.1572G>A | XP_005270632.1:p.Pro524= | |
| XM_005270576.4:c.747G>A | XP_005270633.1:p.Pro249= | |
| XM_011540879.3:c.1527G>A | XP_011539181.1:p.Pro509= | |
| XM_011540882.3:c.870G>A | XP_011539184.1:p.Pro290= | |
| XM_017000523.2:c.1572G>A | XP_016856012.1:p.Pro524= | |
| XM_017000524.2:c.870G>A | XP_016856013.1:p.Pro290= | |
| XM_017000525.2:c.870G>A | XP_016856014.1:p.Pro290= | |
| XM_017000526.2:c.870G>A | XP_016856015.1:p.Pro290= | |
| XM_017000527.2:c.870G>A | XP_016856016.1:p.Pro290= | |
| XM_017000528.2:c.747G>A | XP_016856017.1:p.Pro249= | |
| NM_024852.4:c.1572G>A MANE Select | NP_079128.2:p.Pro524= | |
| NM_177422.3:c.870G>A | NP_803171.1:p.Pro290= |