COSMIC:
COSM4988459 (not active)
COSM4988460 (not active)
Revel Score:
ENST00000446728
0.055
ENST00000367795
0.281
ENST00000367790
0.281
ENST00000426706
0.281
ENST00000367789
0.281
ENST00000263686 (MANE Select)
0.281
ENST00000544572
0.281
ENST00000367793
0.281
ENST00000367794
0.281
ENST00000367792
0.281
ENST00000367791
0.281
ENST00000367788
0.281
ENST00000367786
0.281
ENST00000458599
0.281
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11053541 (NFE)
Genomes Max Group AF
0.10434258 (NFE)
Exomes Max Group AF
0.11080386 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169594713T>G , CM000663.2:g.169594713T>G | GRCh38 |
| NC_000001.10:g.169563951T>G , CM000663.1:g.169563951T>G | GRCh37 |
| NC_000001.9:g.167830575T>G | NCBI36 |
| NG_012125.1:g.40427A>C | |
| NG_012125.2:g.40427A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263686.11:c.2266A>C MANE Select | ENSP00000263686.5:p.Thr756Pro | |
| ENST00000263686.10:c.2266A>C | ENSP00000263686.5:p.Thr756Pro | |
| ENST00000367786.6:c.2080A>C | ENSP00000356760.1:p.Thr694Pro | |
| ENST00000367788.6:c.2080A>C | ENSP00000356762.1:p.Thr694Pro | |
| ENST00000426706.6:c.2263A>C | ENSP00000391694.2:p.Thr755Pro | |
| ENST00000458599.6:c.1714A>C | ENSP00000399368.2:p.Thr572Pro | |
| NM_003005.3:c.2266A>C | NP_002996.2:p.Thr756Pro | |
| XM_005245435.1:c.2266A>C | XP_005245492.1:p.Thr756Pro | |
| XM_005245436.2:c.2266A>C | XP_005245493.1:p.Thr756Pro | |
| XM_005245438.1:c.2266A>C | XP_005245495.1:p.Thr756Pro | |
| XM_005245439.1:c.2266A>C | XP_005245496.1:p.Thr756Pro | |
| XM_005245440.1:c.2080A>C | XP_005245497.1:p.Thr694Pro | |
| XM_005245435.2:c.2266A>C | XP_005245492.1:p.Thr756Pro | |
| XM_005245436.4:c.2266A>C | XP_005245493.1:p.Thr756Pro | |
| XM_005245438.2:c.2266A>C | XP_005245495.1:p.Thr756Pro | |
| XM_005245439.2:c.2266A>C | XP_005245496.1:p.Thr756Pro | |
| XM_005245440.2:c.2080A>C | XP_005245497.1:p.Thr694Pro | |
| NM_003005.4:c.2266A>C MANE Select | NP_002996.2:p.Thr756Pro |