Linked Data
dbSNP Id:
rs780464961
ExAC:
8:134145845 T / G
gnomAD v2:
8-134145845-T-G
gnomAD v4:
8-133133601-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133601T>G , CM000670.2:g.133133601T>G | GRCh38 |
| NC_000008.10:g.134145845T>G , CM000670.1:g.134145845T>G | GRCh37 |
| NC_000008.9:g.134215027T>G | NCBI36 |
| NG_015832.1:g.271641T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8129T>G MANE Select | ENSP00000220616.4:p.Leu2710Arg | |
| ENST00000220616.8:c.8129T>G | ENSP00000220616.4:p.Leu2710Arg | |
| ENST00000519178.5:c.3495T>G | ||
| ENST00000519543.5:c.2528T>G | ENSP00000430430.1:p.Leu843Arg | |
| ENST00000521107.1:c.341T>G | ENSP00000430161.1:p.Leu114Arg | |
| ENST00000522691.1:n.215T>G | ||
| ENST00000523756.5:c.4784T>G | ||
| NM_003235.4:c.8129T>G | NP_003226.4:p.Leu2710Arg | |
| XM_005251038.3:c.7937T>G | XP_005251095.1:p.Leu2646Arg | |
| XM_006716622.2:c.8066T>G | XP_006716685.1:p.Leu2689Arg | |
| XM_005251038.4:c.7937T>G | XP_005251095.1:p.Leu2646Arg | |
| XM_006716622.3:c.8066T>G | XP_006716685.1:p.Leu2689Arg | |
| XM_017013793.1:c.8063T>G | XP_016869282.1:p.Leu2688Arg | |
| XM_017013794.1:c.7994T>G | XP_016869283.1:p.Leu2665Arg | |
| XM_017013795.1:c.7958T>G | XP_016869284.1:p.Leu2653Arg | |
| XM_017013796.1:c.7910T>G | XP_016869285.1:p.Leu2637Arg | |
| XM_017013797.1:c.7868T>G | XP_016869286.1:p.Leu2623Arg | |
| NM_003235.5:c.8129T>G MANE Select | NP_003226.4:p.Leu2710Arg |