Linked Data
ClinVar Variation Id:
95311
dbSNP Id:
rs9014
ExAC:
X:40450585 C / G
gnomAD v2:
X-40450585-C-G
gnomAD v3:
X-40591333-C-G
gnomAD v4:
X-40591333-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40591333C>G , CM000685.2:g.40591333C>G | GRCh38 |
| NC_000023.10:g.40450585C>G , CM000685.1:g.40450585C>G | GRCh37 |
| NC_000023.9:g.40335529C>G | NCBI36 |
| NG_008874.1:g.15370C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378438.9:c.268C>G | ENSP00000367697.5:p.Pro90Ala | |
| ENST00000423649.2:c.268C>G | ENSP00000410105.2:p.Pro90Ala | |
| ENST00000436783.6:c.121C>G | ENSP00000403969.2:p.Pro41Ala | |
| ENST00000447485.6:c.268C>G | ENSP00000411317.2:p.Pro90Ala | |
| ENST00000486558.6:c.40C>G | ENSP00000490706.1:p.Pro14Ala | |
| ENST00000487051.2:n.434C>G | ||
| ENST00000635734.1:c.40C>G | ENSP00000489653.1:p.Pro14Ala | |
| ENST00000635774.1:c.268C>G | ENSP00000490733.1:p.Pro90Ala | |
| ENST00000635829.1:n.75C>G | ||
| ENST00000636196.1:c.268C>G | ENSP00000490675.1:p.Pro90Ala | |
| ENST00000636251.1:c.40C>G | ENSP00000489920.1:p.Pro14Ala | |
| ENST00000636287.1:c.268C>G | ENSP00000490452.1:p.Pro90Ala | |
| ENST00000636409.1:c.268C>G | ENSP00000489819.1:p.Pro90Ala | |
| ENST00000636574.1:c.268C>G | ENSP00000490345.1:p.Pro90Ala | |
| ENST00000636580.2:c.268C>G MANE Select | ENSP00000490083.1:p.Pro90Ala | |
| ENST00000636639.1:c.268C>G | ENSP00000490382.1:p.Pro90Ala | |
| ENST00000636787.1:c.268C>G | ENSP00000490954.1:p.Pro90Ala | |
| ENST00000636970.1:c.40C>G | ENSP00000490462.1:p.Pro14Ala | |
| ENST00000637327.1:c.40C>G | ENSP00000490558.1:p.Pro14Ala | |
| ENST00000637482.1:c.40C>G | ENSP00000490532.1:p.Pro14Ala | |
| ENST00000637526.1:c.121C>G | ENSP00000489845.1:p.Pro41Ala | |
| ENST00000637614.1:c.64C>G | ENSP00000490884.1:p.Pro22Ala | |
| ENST00000637954.1:n.2456C>G | ||
| ENST00000637955.1:c.219C>G | ||
| ENST00000638153.1:c.268C>G | ENSP00000490239.1:p.Pro90Ala | |
| ENST00000378438.8:c.268C>G | ENSP00000367697.4:p.Pro90Ala | |
| ENST00000423649.1:c.323C>G | ||
| ENST00000436783.5:c.364C>G | ENSP00000403969.1:p.Pro122Ala | |
| ENST00000447485.5:c.192C>G | ||
| ENST00000486558.5:n.221C>G | ||
| ENST00000487051.1:n.224C>G | ||
| NM_005765.2:c.268C>G | NP_005756.2:p.Pro90Ala | |
| NM_005765.3:c.268C>G MANE Select | NP_005756.2:p.Pro90Ala |