COSMIC:
COSM4414925 (not active)
Revel Score:
ENST00000319977
0.070
ENST00000245382
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81537058 (AFR)
Genomes Max Group AF
0.80638817 (AFR)
Exomes Max Group AF
0.8214875 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44148179A>C , CM000679.2:g.44148179A>C | GRCh38 |
| NC_000017.10:g.42225547A>C , CM000679.1:g.42225547A>C | GRCh37 |
| NC_000017.9:g.39581073A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585683.6:c.376A>C MANE Select | ENSP00000466618.1:p.Thr126Pro | |
| ENST00000245382.6:c.376A>C | ENSP00000245382.5:p.Thr126Pro | |
| ENST00000319977.8:c.376A>C | ENSP00000313500.4:p.Thr126Pro | |
| ENST00000585683.5:c.376A>C | ENSP00000466618.1:p.Thr126Pro | |
| ENST00000588434.1:n.409A>C | ||
| NM_001171251.1:c.376A>C | NP_001164722.1:p.Thr126Pro | |
| NM_024032.3:c.376A>C | NP_076937.2:p.Thr126Pro | |
| XM_011525187.1:c.376A>C | XP_011523489.1:p.Thr126Pro | |
| XM_011525188.1:c.376A>C | XP_011523490.1:p.Thr126Pro | |
| XM_011525189.1:c.376A>C | XP_011523491.1:p.Thr126Pro | |
| XM_011525190.1:c.376A>C | XP_011523492.1:p.Thr126Pro | |
| XM_011525191.1:c.376A>C | XP_011523493.1:p.Thr126Pro | |
| XM_011525192.1:c.376A>C | XP_011523494.1:p.Thr126Pro | |
| XM_011525193.1:c.376A>C | XP_011523495.1:p.Thr126Pro | |
| XM_011525194.1:c.376A>C | XP_011523496.1:p.Thr126Pro | |
| XM_011525195.1:c.376A>C | XP_011523497.1:p.Thr126Pro | |
| XM_011525196.1:c.376A>C | XP_011523498.1:p.Thr126Pro | |
| XR_934545.1:n.467A>C | ||
| NM_001171251.2:c.376A>C | NP_001164722.1:p.Thr126Pro | |
| NM_001321310.1:c.376A>C | NP_001308239.1:p.Thr126Pro | |
| NM_001321311.1:c.376A>C | NP_001308240.1:p.Thr126Pro | |
| NM_024032.4:c.376A>C | NP_076937.2:p.Thr126Pro | |
| XM_011525187.2:c.376A>C | XP_011523489.1:p.Thr126Pro | |
| XM_011525188.2:c.376A>C | XP_011523490.1:p.Thr126Pro | |
| XM_011525189.2:c.376A>C | XP_011523491.1:p.Thr126Pro | |
| XM_011525190.2:c.376A>C | XP_011523492.1:p.Thr126Pro | |
| XM_011525191.3:c.376A>C | XP_011523493.1:p.Thr126Pro | |
| XM_011525192.2:c.376A>C | XP_011523494.1:p.Thr126Pro | |
| XM_011525193.2:c.376A>C | XP_011523495.1:p.Thr126Pro | |
| XM_011525194.2:c.376A>C | XP_011523496.1:p.Thr126Pro | |
| XM_011525195.2:c.376A>C | XP_011523497.1:p.Thr126Pro | |
| XR_002958064.1:n.34A>C | ||
| XR_934545.2:n.525A>C | ||
| NM_001171251.3:c.376A>C MANE Select | NP_001164722.1:p.Thr126Pro | |
| NM_001321310.2:c.376A>C | NP_001308239.1:p.Thr126Pro | |
| NM_001321311.2:c.376A>C | NP_001308240.1:p.Thr126Pro | |
| NM_024032.5:c.376A>C | NP_076937.2:p.Thr126Pro |