Linked Data
dbSNP Id:
rs762713590
ExAC:
15:64448949 A / G
gnomAD v2:
15-64448949-A-G
gnomAD v3:
15-64156750-A-G
gnomAD v4:
15-64156750-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64156750A>G , CM000677.2:g.64156750A>G | GRCh38 |
| NC_000015.9:g.64448949A>G , CM000677.1:g.64448949A>G | GRCh37 |
| NC_000015.8:g.62236002A>G | NCBI36 |
| NG_012979.1:g.11406T>C , LRG_10:g.11406T>C | |
| NG_033071.1:g.10034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.503T>C (PPIB) MANE Select | ENSP00000300026.4:p.Val168Ala | |
| ENST00000325881.9:c.*2242A>G (SNX22) MANE Select | ENSP00000323435.4:n.*2242A>G | |
| ENST00000561048.2:n.3730T>C (PPIB) | ||
| ENST00000680158.1:c.*176T>C (PPIB) | ENSP00000504873.1:n.*176T>C | |
| ENST00000680343.1:n.457T>C (PPIB) | ||
| ENST00000681397.1:c.503T>C (PPIB) | ENSP00000506584.1:p.Val168Ala | |
| ENST00000681658.1:c.398T>C (PPIB) | ENSP00000505431.1:p.Val133Ala | |
| ENST00000300026.3:c.503T>C (PPIB) | ENSP00000300026.3:p.Val168Ala | |
| ENST00000325881.8:c.*2242A>G (SNX22) | ENSP00000323435.4:n.*2242A>G | |
| ENST00000557789.5:n.2982A>G (SNX22) | ||
| ENST00000560997.1:n.2637A>G (SNX22) | ||
| NM_000942.4:c.503T>C , LRG_10t1:c.503T>C (PPIB) | NP_000933.1:p.Val168Ala | |
| NM_024798.2:c.*2242A>G (SNX22) | NP_079074.2:n.*2242A>G | |
| NR_073534.1:n.2930A>G (SNX22) | ||
| XM_017022581.1:c.*2242A>G (SNX22) | XP_016878070.1:n.*2242A>G | |
| NM_024798.3:c.*2242A>G (SNX22) MANE Select | NP_079074.2:n.*2242A>G | |
| NM_000942.5:c.503T>C (PPIB) MANE Select | NP_000933.1:p.Val168Ala | |
| NR_073534.2:n.2916A>G (SNX22) |