Linked Data
dbSNP Id:
rs750471897
ExAC:
5:138860340 T / C
gnomAD v2:
5-138860340-T-C
gnomAD v3:
5-139480755-T-C
gnomAD v4:
5-139480755-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139480755T>C , CM000667.2:g.139480755T>C | GRCh38 |
| NC_000005.9:g.138860340T>C , CM000667.1:g.138860340T>C | GRCh37 |
| NC_000005.8:g.138840524T>C | NCBI36 |
| NG_034249.1:g.7036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330794.9:c.520+35A>G MANE Select | ENSP00000331288.4:n.520+35A>G | |
| ENST00000502362.2:n.1295+35A>G | ||
| ENST00000510817.2:c.520+35A>G | ENSP00000427455.2:n.520+35A>G | |
| ENST00000511886.6:n.1462+35A>G | ||
| ENST00000512606.6:n.756+35A>G | ||
| ENST00000514119.6:n.739+35A>G | ||
| ENST00000650883.1:c.163+35A>G | ENSP00000499142.1:n.163+35A>G | |
| ENST00000651565.1:c.163+35A>G | ENSP00000498768.1:n.163+35A>G | |
| ENST00000651699.1:c.520+35A>G | ENSP00000499166.1:n.520+35A>G | |
| ENST00000652110.1:c.520+35A>G | ENSP00000498513.1:n.520+35A>G | |
| ENST00000652271.1:c.520+35A>G | ENSP00000498596.1:n.520+35A>G | |
| ENST00000652543.1:c.163+35A>G | ENSP00000498683.1:n.163+35A>G | |
| ENST00000330794.8:c.520+35A>G | ENSP00000331288.4:n.520+35A>G | |
| ENST00000502825.1:n.298+35A>G | ||
| ENST00000503287.5:n.412+35A>G | ||
| ENST00000503838.1:n.560+35A>G | ||
| ENST00000507297.5:n.1157+35A>G | ||
| ENST00000509573.5:n.319+35A>G | ||
| ENST00000510817.1:c.520+35A>G | ENSP00000427455.1:n.520+35A>G | |
| ENST00000511850.1:n.742+35A>G | ||
| ENST00000511886.5:n.526+35A>G | ||
| ENST00000512606.5:n.445+35A>G | ||
| ENST00000514119.5:n.957+35A>G | ||
| ENST00000515507.5:n.566+35A>G | ||
| NM_001301738.1:c.520+35A>G | NP_001288667.1:n.520+35A>G | |
| NM_198282.3:c.520+35A>G | NP_938023.1:n.520+35A>G | |
| XM_005268445.2:c.520+35A>G | XP_005268502.1:n.520+35A>G | |
| XM_011537639.1:c.520+35A>G | XP_011535941.1:n.520+35A>G | |
| XM_011537640.1:c.163+35A>G | XP_011535942.1:n.163+35A>G | |
| XM_005268445.4:c.520+35A>G | XP_005268502.1:n.520+35A>G | |
| XM_011537639.3:c.520+35A>G | XP_011535941.1:n.520+35A>G | |
| XM_011537640.2:c.163+35A>G | XP_011535942.1:n.163+35A>G | |
| NM_001301738.2:c.520+35A>G | NP_001288667.1:n.520+35A>G | |
| NM_001367258.1:c.163+35A>G | NP_001354187.1:n.163+35A>G | |
| NM_198282.4:c.520+35A>G MANE Select | NP_938023.1:n.520+35A>G |