Revel Score:
ENST00000265808
0.111
ENST00000276373 (MANE Select)
0.111
ENST00000440926
0.111
ENST00000437980
0.111
ENST00000519026
0.111
ENST00000381608
0.111
ENST00000522513
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91016525 (AFR)
Genomes Max Group AF
0.90365088 (AFR)
Exomes Max Group AF
0.91295166 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20179202A>G , CM000670.2:g.20179202A>G | GRCh38 |
| NC_000008.10:g.20036713A>G , CM000670.1:g.20036713A>G | GRCh37 |
| NC_000008.9:g.20080993A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276373.10:c.407T>C MANE Select | ENSP00000276373.5:p.Ile136Thr | |
| ENST00000265808.11:c.407T>C | ENSP00000265808.7:p.Ile136Thr | |
| ENST00000276373.9:c.407T>C | ENSP00000276373.5:p.Ile136Thr | |
| ENST00000381608.8:c.407T>C | ENSP00000371021.4:p.Ile136Thr | |
| ENST00000437980.3:c.407T>C | ENSP00000413361.1:p.Ile136Thr | |
| ENST00000440926.3:c.407T>C | ENSP00000387549.1:p.Ile136Thr | |
| ENST00000517776.5:c.407T>C | ENSP00000428001.1:p.Ile136Thr | |
| ENST00000519026.5:c.407T>C | ENSP00000429664.1:p.Ile136Thr | |
| ENST00000522513.5:c.407T>C | ENSP00000428999.1:p.Ile136Thr | |
| NM_001135691.2:c.407T>C | NP_001129163.1:p.Ile136Thr | |
| NM_001142324.1:c.407T>C | NP_001135796.1:p.Ile136Thr | |
| NM_001142325.1:c.407T>C | NP_001135797.1:p.Ile136Thr | |
| NM_003053.3:c.407T>C | NP_003044.1:p.Ile136Thr | |
| XM_011544623.1:c.407T>C | XP_011542925.1:p.Ile136Thr | |
| XM_011544624.1:c.407T>C | XP_011542926.1:p.Ile136Thr | |
| XM_011544625.1:c.407T>C | XP_011542927.1:p.Ile136Thr | |
| XM_011544626.1:c.407T>C | XP_011542928.1:p.Ile136Thr | |
| XM_011544627.1:c.407T>C | XP_011542929.1:p.Ile136Thr | |
| XM_011544628.1:c.407T>C | XP_011542930.1:p.Ile136Thr | |
| NM_003053.4:c.407T>C MANE Select | NP_003044.1:p.Ile136Thr | |
| NM_001142324.2:c.407T>C | NP_001135796.1:p.Ile136Thr | |
| NM_001135691.3:c.407T>C | NP_001129163.1:p.Ile136Thr | |
| NM_001142325.2:c.407T>C | NP_001135797.1:p.Ile136Thr |