Linked Data
dbSNP Id:
rs531167775
gnomAD v2:
8-134145788-G-T
gnomAD v3:
8-133133544-G-T
gnomAD v4:
8-133133544-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133544G>T , CM000670.2:g.133133544G>T | GRCh38 |
| NC_000008.10:g.134145788G>T , CM000670.1:g.134145788G>T | GRCh37 |
| NC_000008.9:g.134214970G>T | NCBI36 |
| NG_015832.1:g.271584G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8072G>T MANE Select | ENSP00000220616.4:p.Arg2691Leu | |
| ENST00000220616.8:c.8072G>T | ENSP00000220616.4:p.Arg2691Leu | |
| ENST00000519178.5:c.3438G>T | ||
| ENST00000519543.5:c.2471G>T | ENSP00000430430.1:p.Arg824Leu | |
| ENST00000521107.1:c.284G>T | ENSP00000430161.1:p.Arg95Leu | |
| ENST00000522691.1:n.158G>T | ||
| ENST00000523756.5:c.4727G>T | ||
| NM_003235.4:c.8072G>T | NP_003226.4:p.Arg2691Leu | |
| XM_005251038.3:c.7880G>T | XP_005251095.1:p.Arg2627Leu | |
| XM_006716622.2:c.8009G>T | XP_006716685.1:p.Arg2670Leu | |
| XM_005251038.4:c.7880G>T | XP_005251095.1:p.Arg2627Leu | |
| XM_006716622.3:c.8009G>T | XP_006716685.1:p.Arg2670Leu | |
| XM_017013793.1:c.8006G>T | XP_016869282.1:p.Arg2669Leu | |
| XM_017013794.1:c.7937G>T | XP_016869283.1:p.Arg2646Leu | |
| XM_017013795.1:c.7901G>T | XP_016869284.1:p.Arg2634Leu | |
| XM_017013796.1:c.7853G>T | XP_016869285.1:p.Arg2618Leu | |
| XM_017013797.1:c.7811G>T | XP_016869286.1:p.Arg2604Leu | |
| NM_003235.5:c.8072G>T MANE Select | NP_003226.4:p.Arg2691Leu |