Revel Score:
ENST00000435564
0.054
ENST00000346717
0.054
ENST00000536095
0.054
ENST00000409365 (MANE Select)
0.054
ENST00000331935
0.054
ENST00000351439
0.054
ENST00000410103
0.054
ENST00000358139
0.054
ENST00000456212
0.054
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045261 (NFE)
Genomes Max Group AF
0.00026695 (NFE)
Exomes Max Group AF
0.00045782 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182186068A>G , CM000664.2:g.182186068A>G | GRCh38 |
| NC_000002.11:g.183050795A>G , CM000664.1:g.183050795A>G | GRCh37 |
| NC_000002.10:g.182759040A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351439.10:c.1340T>C | ENSP00000309269.9:p.Ile447Thr | |
| ENST00000409365.6:c.1340T>C MANE Select | ENSP00000386767.1:p.Ile447Thr | |
| ENST00000410103.2:c.1388T>C | ENSP00000387037.1:p.Ile463Thr | |
| ENST00000435564.6:c.1388T>C | ENSP00000410309.1:p.Ile463Thr | |
| ENST00000462938.6:c.*1282T>C | ENSP00000512256.1:n.*1282T>C | |
| ENST00000482782.6:c.1388T>C | ENSP00000512257.1:p.Ile463Thr | |
| ENST00000495511.2:c.1388T>C | ENSP00000512258.1:p.Ile463Thr | |
| ENST00000351439.9:c.1340T>C | ENSP00000309269.9:p.Ile447Thr | |
| ENST00000358139.6:c.1286T>C | ENSP00000350858.3:p.Ile429Thr | |
| ENST00000409365.5:c.1340T>C | ENSP00000386767.1:p.Ile447Thr | |
| ENST00000410103.1:c.1388T>C | ENSP00000387037.1:p.Ile463Thr | |
| ENST00000435564.5:c.1388T>C | ENSP00000410309.1:p.Ile463Thr | |
| NM_001003683.2:c.1388T>C | NP_001003683.1:p.Ile463Thr | |
| NM_001258312.1:c.1400T>C | NP_001245241.1:p.Ile467Thr | |
| NM_001258313.1:c.1340T>C | NP_001245242.1:p.Ile447Thr | |
| NM_001258314.1:c.1286T>C | NP_001245243.1:p.Ile429Thr | |
| NM_005019.4:c.1388T>C | NP_005010.2:p.Ile463Thr | |
| XM_011511323.1:c.1388T>C | XP_011509625.1:p.Ile463Thr | |
| XM_011511324.1:c.1388T>C | XP_011509626.1:p.Ile463Thr | |
| XM_011511325.1:c.1340T>C | XP_011509627.1:p.Ile447Thr | |
| XM_011511326.1:c.1286T>C | XP_011509628.1:p.Ile429Thr | |
| NM_001363871.1:c.1340T>C | NP_001350800.1:p.Ile447Thr | |
| XM_011511323.2:c.1388T>C | XP_011509625.1:p.Ile463Thr | |
| XM_011511324.3:c.1388T>C | XP_011509626.1:p.Ile463Thr | |
| XM_011511325.3:c.1340T>C | XP_011509627.1:p.Ile447Thr | |
| XM_011511326.2:c.1286T>C | XP_011509628.1:p.Ile429Thr | |
| XM_017004294.2:c.1388T>C | XP_016859783.1:p.Ile463Thr | |
| XM_017004295.2:c.1388T>C | XP_016859784.1:p.Ile463Thr | |
| XM_017004296.2:c.1388T>C | XP_016859785.1:p.Ile463Thr | |
| XM_017004297.1:c.1388T>C | XP_016859786.1:p.Ile463Thr | |
| XM_017004298.1:c.1388T>C | XP_016859787.1:p.Ile463Thr | |
| XM_017004299.2:c.1388T>C | XP_016859788.1:p.Ile463Thr | |
| XM_017004300.1:c.1388T>C | XP_016859789.1:p.Ile463Thr | |
| XM_017004301.1:c.1388T>C | XP_016859790.1:p.Ile463Thr | |
| XM_024452959.1:c.1388T>C | XP_024308727.1:p.Ile463Thr | |
| XR_001738769.2:n.1736T>C | ||
| XR_002959304.1:n.1576T>C | ||
| NM_001363871.2:c.1340T>C | NP_001350800.1:p.Ile447Thr | |
| NM_005019.5:c.1388T>C | NP_005010.2:p.Ile463Thr | |
| NM_001258313.2:c.1340T>C | NP_001245242.1:p.Ile447Thr | |
| NM_001258314.2:c.1286T>C | NP_001245243.1:p.Ile429Thr | |
| NM_001003683.3:c.1388T>C | NP_001003683.1:p.Ile463Thr | |
| NM_001258312.3:c.1400T>C | NP_001245241.1:p.Ile467Thr | |
| NM_001258313.3:c.1340T>C | NP_001245242.1:p.Ile447Thr | |
| NM_001258314.3:c.1286T>C | NP_001245243.1:p.Ile429Thr | |
| NM_001363871.4:c.1340T>C MANE Select | NP_001350800.1:p.Ile447Thr | |
| NM_001395258.2:c.1388T>C | NP_001382187.1:p.Ile463Thr | |
| NM_001395259.2:c.1388T>C | NP_001382188.1:p.Ile463Thr | |
| NM_001395260.2:c.1388T>C | NP_001382189.1:p.Ile463Thr | |
| NM_001395261.2:c.1388T>C | NP_001382190.1:p.Ile463Thr | |
| NM_001395262.1:c.1388T>C | NP_001382191.1:p.Ile463Thr | |
| NM_001395263.1:c.1388T>C | NP_001382192.1:p.Ile463Thr | |
| NM_001395264.1:c.1340T>C | NP_001382193.1:p.Ile447Thr | |
| NM_001395265.2:c.1076T>C | NP_001382194.1:p.Ile359Thr | |
| NM_005019.7:c.1388T>C | NP_005010.2:p.Ile463Thr |