Linked Data
dbSNP Id:
rs1448933231
gnomAD v2:
1-197403955-A-G
gnomAD v3:
1-197434825-A-G
gnomAD v4:
1-197434825-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434825A>G , CM000663.2:g.197434825A>G | GRCh38 |
| NC_000001.10:g.197403955A>G , CM000663.1:g.197403955A>G | GRCh37 |
| NC_000001.9:g.195670578A>G | NCBI36 |
| NG_008483.1:g.171548A>G | |
| NG_008483.2:g.238364A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2962A>G MANE Select | ENSP00000356370.3:p.Ile988Val | |
| ENST00000638467.1:c.2962A>G | ENSP00000491102.1:p.Ile988Val | |
| ENST00000681519.1:c.1843A>G | ENSP00000505267.1:p.Ile615Val | |
| ENST00000367397.1:c.1105A>G | ENSP00000356367.1:p.Ile369Val | |
| ENST00000367399.6:c.2626A>G | ENSP00000356369.2:p.Ile876Val | |
| ENST00000367400.7:c.2962A>G | ENSP00000356370.3:p.Ile988Val | |
| ENST00000484075.5:c.2962A>G | ENSP00000433932.1:p.Ile988Val | |
| ENST00000535699.5:c.2890A>G | ENSP00000438786.1:p.Ile964Val | |
| ENST00000538660.5:c.2129-775A>G | ENSP00000438091.1:n.2129-775A>G | |
| NM_001193640.1:c.2626A>G | NP_001180569.1:p.Ile876Val | |
| NM_001257965.1:c.2890A>G | NP_001244894.1:p.Ile964Val | |
| NM_001257966.1:c.2129-775A>G | NP_001244895.1:n.2129-775A>G | |
| NM_201253.2:c.2962A>G | NP_957705.1:p.Ile988Val | |
| NR_047563.1:n.2963A>G | ||
| NR_047564.1:n.3171A>G | ||
| XM_011509365.1:c.2962A>G | XP_011507667.1:p.Ile988Val | |
| XM_011509366.1:c.2962A>G | XP_011507668.1:p.Ile988Val | |
| XM_011509367.1:c.2962A>G | XP_011507669.1:p.Ile988Val | |
| XM_011509368.1:c.2380A>G | XP_011507670.1:p.Ile794Val | |
| XM_011509369.1:c.1405A>G | XP_011507671.1:p.Ile469Val | |
| XM_011509365.2:c.2962A>G | XP_011507667.1:p.Ile988Val | |
| XM_011509369.2:c.1405A>G | XP_011507671.1:p.Ile469Val | |
| XM_017000851.1:c.2119A>G | XP_016856340.1:p.Ile707Val | |
| XM_017000852.1:c.3097A>G | XP_016856341.1:p.Ile1033Val | |
| NM_201253.3:c.2962A>G MANE Select | NP_957705.1:p.Ile988Val | |
| NM_001193640.2:c.2626A>G | NP_001180569.1:p.Ile876Val | |
| NM_001257965.2:c.2890A>G | NP_001244894.1:p.Ile964Val | |
| NR_047563.2:n.2915A>G | ||
| NR_047564.2:n.3123A>G | ||
| NM_001257966.2:c.2129-775A>G | NP_001244895.1:n.2129-775A>G |