Linked Data
dbSNP Id:
rs373145656
ExAC:
3:38936340 C / A
gnomAD v2:
3-38936340-C-A
gnomAD v4:
3-38894849-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38894849C>A , CM000665.2:g.38894849C>A | GRCh38 |
| NC_000003.11:g.38936340C>A , CM000665.1:g.38936340C>A | GRCh37 |
| NC_000003.10:g.38911344C>A | NCBI36 |
| NG_033859.1:g.60713G>T | |
| NG_033859.2:g.162138G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302328.9:c.2519G>T MANE Select | ENSP00000307599.3:p.Arg840Leu | |
| ENST00000668754.1:c.2519G>T | ENSP00000499569.1:p.Arg840Leu | |
| ENST00000675223.1:c.2519G>T | ENSP00000502481.1:p.Arg840Leu | |
| ENST00000675672.1:c.2519G>T | ENSP00000502446.1:p.Arg840Leu | |
| ENST00000675892.1:c.2339G>T | ENSP00000502318.1:p.Arg780Leu | |
| ENST00000676045.1:c.2563G>T | ENSP00000501685.1:n.2563G>T | |
| ENST00000676176.1:c.2138G>T | ENSP00000501891.1:p.Arg713Leu | |
| ENST00000302328.7:c.2519G>T | ENSP00000307599.3:p.Arg840Leu | |
| ENST00000444237.2:c.2519G>T | ENSP00000408028.2:p.Arg840Leu | |
| ENST00000456224.7:c.2519G>T | ENSP00000416757.3:p.Arg840Leu | |
| NM_001287223.1:c.2519G>T | NP_001274152.1:p.Arg840Leu | |
| NM_014139.2:c.2519G>T | NP_054858.2:p.Arg840Leu | |
| XM_011533320.1:c.2519G>T | XP_011531622.1:p.Arg840Leu | |
| XM_011533321.1:c.1856G>T | XP_011531623.1:p.Arg619Leu | |
| XM_011533322.1:c.1067G>T | XP_011531624.1:p.Arg356Leu | |
| NM_001349253.1:c.2519G>T | NP_001336182.1:p.Arg840Leu | |
| XM_011533321.2:c.1856G>T | XP_011531623.1:p.Arg619Leu | |
| XM_017005647.1:c.2894G>T | XP_016861136.1:p.Arg965Leu | |
| XM_017005648.1:c.2321G>T | XP_016861137.1:p.Arg774Leu | |
| XM_017005650.1:c.2519G>T | XP_016861139.1:p.Arg840Leu | |
| XM_017005651.1:c.2246G>T | XP_016861140.1:p.Arg749Leu | |
| XM_017005652.1:c.2519G>T | XP_016861141.1:p.Arg840Leu | |
| XM_017005653.1:c.923G>T | XP_016861142.1:p.Arg308Leu | |
| NM_001349253.2:c.2519G>T MANE Select | NP_001336182.1:p.Arg840Leu | |
| NM_014139.3:c.2519G>T | NP_054858.2:p.Arg840Leu |