ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001567 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
Revel Score:
ENST00000361874
0.299
ENST00000394003
0.299
ENST00000393999
0.299
ENST00000407639
0.299
ENST00000409438
0.299
ENST00000409240
0.299
ENST00000409868
0.299
ENST00000409567
0.299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74363337C>T , CM000664.2:g.74363337C>T | GRCh38 |
| NC_000002.11:g.74590464C>T , CM000664.1:g.74590464C>T | GRCh37 |
| NC_000002.10:g.74443972C>T | NCBI36 |
| NG_008735.2:g.33751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3287G>A | ENSP00000354791.4:p.Arg1096Lys | |
| ENST00000628224.3:c.3302G>A MANE Select | ENSP00000487279.2:p.Arg1101Lys | |
| ENST00000680606.1:c.3251G>A | ENSP00000505612.1:p.Arg1084Lys | |
| ENST00000361874.7:c.3302G>A | ENSP00000354791.3:p.Arg1101Lys | |
| ENST00000394003.7:c.3281G>A | ENSP00000377571.3:p.Arg1094Lys | |
| ENST00000409240.5:c.3176G>A | ENSP00000386406.1:p.Arg1059Lys | |
| ENST00000409438.5:c.2885G>A | ENSP00000387270.1:p.Arg962Lys | |
| ENST00000409567.7:c.3227G>A | ENSP00000386843.3:p.Arg1076Lys | |
| ENST00000409868.5:c.3236G>A | ENSP00000387327.1:p.Arg1079Lys | |
| ENST00000434055.5:c.*586G>A | ENSP00000416711.1:n.*586G>A | |
| ENST00000451608.2:c.41G>A | ENSP00000416453.2:p.Arg14Lys | |
| ENST00000466110.5:n.4539G>A | ||
| ENST00000491465.5:n.1565G>A | ||
| ENST00000497666.1:n.97-1800G>A | ||
| ENST00000628224.2:c.3236G>A | ENSP00000487279.1:p.Arg1079Lys | |
| ENST00000633691.1:c.2900G>A | ENSP00000487724.1:p.Arg967Lys | |
| NM_001135040.2:c.3227G>A | NP_001128512.1:p.Arg1076Lys | |
| NM_001135041.2:c.2885G>A | NP_001128513.1:p.Arg962Lys | |
| NM_001190836.1:c.3176G>A | NP_001177765.1:p.Arg1059Lys | |
| NM_001190837.1:c.3281G>A | NP_001177766.1:p.Arg1094Lys | |
| NM_004082.4:c.3302G>A | NP_004073.2:p.Arg1101Lys | |
| NM_023019.3:c.2900G>A | NP_075408.1:p.Arg967Lys | |
| NR_033935.1:n.3571G>A | ||
| NM_001135040.3:c.3227G>A | NP_001128512.1:p.Arg1076Lys | |
| NM_001135041.3:c.2885G>A | NP_001128513.1:p.Arg962Lys | |
| NM_001190836.2:c.3176G>A | NP_001177765.1:p.Arg1059Lys | |
| NM_001190837.2:c.3281G>A | NP_001177766.1:p.Arg1094Lys | |
| NM_001378991.1:c.3251G>A | NP_001365920.1:p.Arg1084Lys | |
| NM_001378992.1:c.3233G>A | NP_001365921.1:p.Arg1078Lys | |
| NM_004082.5:c.3302G>A MANE Select | NP_004073.2:p.Arg1101Lys | |
| NM_023019.4:c.2900G>A | NP_075408.1:p.Arg967Lys | |
| NR_033935.2:n.3350G>A |