Linked Data
dbSNP Id:
rs1020397670
gnomAD v2:
4-184210640-G-T
gnomAD v3:
4-183289487-G-T
gnomAD v4:
4-183289487-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289487G>T , CM000666.2:g.183289487G>T | GRCh38 |
| NC_000004.11:g.184210640G>T , CM000666.1:g.184210640G>T | GRCh37 |
| NC_000004.10:g.184447634G>T | NCBI36 |
| NG_051586.1:g.195853G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3236G>T MANE Select | ENSP00000384222.3:p.Arg1079Leu | |
| ENST00000403733.7:c.3236G>T | ENSP00000384222.3:p.Arg1079Leu | |
| ENST00000427431.5:c.*2628G>T | ENSP00000393342.1:n.*2628G>T | |
| ENST00000438543.5:c.*1032G>T | ENSP00000413521.1:n.*1032G>T | |
| ENST00000448232.6:c.3308G>T | ENSP00000398577.2:p.Arg1103Leu | |
| ENST00000504005.5:c.2282G>T | ENSP00000427569.1:p.Arg761Leu | |
| ENST00000508747.1:c.620G>T | ENSP00000420835.1:p.Arg207Leu | |
| ENST00000513834.5:c.3089G>T | ENSP00000425054.1:p.Arg1030Leu | |
| NM_024949.5:c.3236G>T | NP_079225.5:p.Arg1079Leu | |
| XM_011532269.1:c.3308G>T | XP_011530571.1:p.Arg1103Leu | |
| XM_011532269.3:c.3308G>T | XP_011530571.1:p.Arg1103Leu | |
| XM_024454225.1:c.3014G>T | XP_024309993.1:p.Arg1005Leu | |
| NM_024949.6:c.3236G>T MANE Select | NP_079225.5:p.Arg1079Leu |