Linked Data
dbSNP Id:
rs774857058
ExAC:
2:44145468 C / A
gnomAD v2:
2-44145468-C-A
gnomAD v4:
2-43918329-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918329C>A , CM000664.2:g.43918329C>A | GRCh38 |
| NC_000002.11:g.44145468C>A , CM000664.1:g.44145468C>A | GRCh37 |
| NC_000002.10:g.43998972C>A | NCBI36 |
| NG_008247.1:g.82677G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.518G>T | ||
| ENST00000682295.1:c.230G>T | ENSP00000507499.1:p.Arg77Leu | |
| ENST00000682303.1:c.*2752G>T | ENSP00000508325.1:n.*2752G>T | |
| ENST00000682308.1:c.2966G>T | ENSP00000507056.1:p.Arg989Leu | |
| ENST00000682480.1:c.2966G>T | ENSP00000508344.1:p.Arg989Leu | |
| ENST00000682546.1:c.2963G>T | ENSP00000508188.1:p.Arg988Leu | |
| ENST00000682585.1:c.2966G>T | ENSP00000506885.1:p.Arg989Leu | |
| ENST00000682595.1:n.3550G>T | ||
| ENST00000682607.1:c.1384G>T | ||
| ENST00000682779.1:c.2957G>T | ENSP00000507947.1:p.Arg986Leu | |
| ENST00000682845.1:n.2068G>T | ||
| ENST00000682885.1:c.2921G>T | ENSP00000508036.1:p.Arg974Leu | |
| ENST00000682933.1:n.3040G>T | ||
| ENST00000683072.1:n.3550G>T | ||
| ENST00000683080.1:n.585G>T | ||
| ENST00000683125.1:c.3074G>T | ENSP00000507939.1:p.Arg1025Leu | |
| ENST00000683213.1:c.2969G>T | ENSP00000507751.1:p.Arg990Leu | |
| ENST00000683220.1:c.2996G>T | ENSP00000507151.1:p.Arg999Leu | |
| ENST00000683236.1:c.296G>T | ENSP00000506891.1:n.296G>T | |
| ENST00000683329.1:n.3769G>T | ||
| ENST00000683346.1:c.*2841G>T | ENSP00000507458.1:n.*2841G>T | |
| ENST00000683409.1:n.1573G>T | ||
| ENST00000683459.1:n.3553G>T | ||
| ENST00000683590.1:c.2897-5771G>T | ENSP00000506820.1:n.2897-5771G>T | |
| ENST00000683623.1:c.2873G>T | ENSP00000507702.1:p.Arg958Leu | |
| ENST00000683645.1:n.3517G>T | ||
| ENST00000683796.1:c.*2838G>T | ENSP00000508221.1:n.*2838G>T | |
| ENST00000683802.1:n.5891G>T | ||
| ENST00000683833.1:c.2957G>T | ENSP00000506852.1:p.Arg986Leu | |
| ENST00000683994.1:c.2966G>T | ENSP00000507181.1:p.Arg989Leu | |
| ENST00000684290.1:c.*502G>T | ENSP00000507243.1:n.*502G>T | |
| ENST00000684306.1:c.*2879G>T | ENSP00000508384.1:n.*2879G>T | |
| ENST00000684341.1:n.2986G>T | ||
| ENST00000684383.1:c.*2604G>T | ENSP00000506863.1:n.*2604G>T | |
| ENST00000684619.1:c.*2838G>T | ENSP00000508088.1:n.*2838G>T | |
| ENST00000684705.1:n.87G>T | ||
| ENST00000684743.1:n.3997G>T | ||
| ENST00000260665.12:c.2966G>T MANE Select | ENSP00000260665.7:p.Arg989Leu | |
| ENST00000260665.11:c.2966G>T | ENSP00000260665.7:p.Arg989Leu | |
| NM_133259.3:c.2966G>T | NP_573566.2:p.Arg989Leu | |
| XM_006711915.2:c.2888G>T | XP_006711978.1:p.Arg963Leu | |
| XM_006711916.2:c.2966G>T | XP_006711979.1:p.Arg989Leu | |
| XM_011532473.1:c.2966G>T | XP_011530775.1:p.Arg989Leu | |
| XM_011532474.1:c.2966G>T | XP_011530776.1:p.Arg989Leu | |
| XM_006711916.3:c.2966G>T | XP_006711979.1:p.Arg989Leu | |
| XM_017003117.1:c.2888G>T | XP_016858606.1:p.Arg963Leu | |
| XR_002958896.1:n.3008G>T | ||
| NM_133259.4:c.2966G>T MANE Select | NP_573566.2:p.Arg989Leu |