Linked Data
dbSNP Id:
rs199596519
gnomAD v2:
15-22969191-G-T
gnomAD v3:
15-22903877-C-A
gnomAD v4:
15-22903877-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903877C>A , CM000677.2:g.22903877C>A | GRCh38 |
| NC_000015.9:g.22969191G>T , CM000677.1:g.22969191G>T | GRCh37 |
| NC_000015.8:g.20520632G>T | NCBI36 |
| NG_054889.1:g.82030G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2411G>T | ENSP00000479802.2:p.Arg804Leu | |
| ENST00000617928.5:c.2417G>T MANE Select | ENSP00000481038.1:p.Arg806Leu | |
| ENST00000610365.4:c.2417G>T | ENSP00000478779.1:p.Arg806Leu | |
| ENST00000617556.4:c.1124G>T | ENSP00000480525.1:p.Arg375Leu | |
| ENST00000617928.4:c.2417G>T | ENSP00000481038.1:p.Arg806Leu | |
| ENST00000619290.4:n.810G>T | ||
| ENST00000619348.4:n.1564G>T | ||
| NM_001033028.1:c.1124G>T | NP_001028200.1:p.Arg375Leu | |
| NM_001287810.1:c.2417G>T | NP_001274739.1:p.Arg806Leu | |
| NM_014608.3:c.2417G>T | NP_055423.1:p.Arg806Leu | |
| XM_011543873.1:c.2816G>T | XP_011542175.1:p.Arg939Leu | |
| XM_011543874.1:c.2816G>T | XP_011542176.1:p.Arg939Leu | |
| XM_011543875.1:c.2816G>T | XP_011542177.1:p.Arg939Leu | |
| XM_011543876.1:c.2411G>T | XP_011542178.1:p.Arg804Leu | |
| NM_001033028.2:c.1124G>T | NP_001028200.1:p.Arg375Leu | |
| NM_001287810.3:c.2417G>T | NP_001274739.1:p.Arg806Leu | |
| NM_001324119.2:c.2519G>T | NP_001311048.1:p.Arg840Leu | |
| NM_001324120.2:c.2417G>T | NP_001311049.1:p.Arg806Leu | |
| NM_001324122.2:c.737G>T | NP_001311051.1:p.Arg246Leu | |
| NM_001324123.2:c.2417G>T | NP_001311052.1:p.Arg806Leu | |
| NM_001324124.2:c.2327G>T | NP_001311053.1:p.Arg776Leu | |
| NM_001324125.2:c.2051G>T | NP_001311054.1:p.Arg684Leu | |
| NM_001324126.2:c.2315G>T | NP_001311055.1:p.Arg772Leu | |
| NM_014608.5:c.2417G>T | NP_055423.1:p.Arg806Leu | |
| XM_011543873.3:c.2816G>T | XP_011542175.1:p.Arg939Leu | |
| XM_011543874.2:c.2816G>T | XP_011542176.1:p.Arg939Leu | |
| XM_011543876.3:c.2513G>T | XP_011542178.2:p.Arg838Leu | |
| XM_017022023.2:c.2918G>T | XP_016877512.1:p.Arg973Leu | |
| XM_017022024.2:c.2816G>T | XP_016877513.1:p.Arg939Leu | |
| XM_024449876.1:c.2816G>T | XP_024305644.1:p.Arg939Leu | |
| XM_024449877.1:c.2417G>T | XP_024305645.1:p.Arg806Leu | |
| NM_014608.6:c.2417G>T MANE Select | NP_055423.1:p.Arg806Leu | |
| NM_001287810.4:c.2417G>T | NP_001274739.1:p.Arg806Leu | |
| NM_001324122.3:c.737G>T | NP_001311051.1:p.Arg246Leu | |
| NM_001324123.3:c.2417G>T | NP_001311052.1:p.Arg806Leu | |
| NM_001324124.3:c.2327G>T | NP_001311053.1:p.Arg776Leu | |
| NM_001324125.3:c.2051G>T | NP_001311054.1:p.Arg684Leu | |
| NM_001324126.3:c.2315G>T | NP_001311055.1:p.Arg772Leu | |
| NM_001033028.3:c.1124G>T | NP_001028200.1:p.Arg375Leu |