Linked Data
dbSNP Id:
rs769611277
ExAC:
8:134145840 G / A
gnomAD v2:
8-134145840-G-A
gnomAD v3:
8-133133596-G-A
gnomAD v4:
8-133133596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133596G>A , CM000670.2:g.133133596G>A | GRCh38 |
| NC_000008.10:g.134145840G>A , CM000670.1:g.134145840G>A | GRCh37 |
| NC_000008.9:g.134215022G>A | NCBI36 |
| NG_015832.1:g.271636G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8124G>A MANE Select | ENSP00000220616.4:p.Gln2708= | |
| ENST00000220616.8:c.8124G>A | ENSP00000220616.4:p.Gln2708= | |
| ENST00000519178.5:c.3490G>A | ||
| ENST00000519543.5:c.2523G>A | ENSP00000430430.1:p.Gln841= | |
| ENST00000521107.1:c.336G>A | ENSP00000430161.1:p.Gln112= | |
| ENST00000522691.1:n.210G>A | ||
| ENST00000523756.5:c.4779G>A | ||
| NM_003235.4:c.8124G>A | NP_003226.4:p.Gln2708= | |
| XM_005251038.3:c.7932G>A | XP_005251095.1:p.Gln2644= | |
| XM_006716622.2:c.8061G>A | XP_006716685.1:p.Gln2687= | |
| XM_005251038.4:c.7932G>A | XP_005251095.1:p.Gln2644= | |
| XM_006716622.3:c.8061G>A | XP_006716685.1:p.Gln2687= | |
| XM_017013793.1:c.8058G>A | XP_016869282.1:p.Gln2686= | |
| XM_017013794.1:c.7989G>A | XP_016869283.1:p.Gln2663= | |
| XM_017013795.1:c.7953G>A | XP_016869284.1:p.Gln2651= | |
| XM_017013796.1:c.7905G>A | XP_016869285.1:p.Gln2635= | |
| XM_017013797.1:c.7863G>A | XP_016869286.1:p.Gln2621= | |
| NM_003235.5:c.8124G>A MANE Select | NP_003226.4:p.Gln2708= |