Revel Score:
ENST00000340811 (MANE Select)
0.028
ENST00000070846
0.028
ENST00000537278
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00354978 (MID)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00374451 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32802502T>C , CM000674.2:g.32802502T>C | GRCh38 |
| NC_000012.11:g.32955436T>C , CM000674.1:g.32955436T>C | GRCh37 |
| NC_000012.10:g.32846703T>C | NCBI36 |
| NG_009000.1:g.99345A>G , LRG_398:g.99345A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.571A>G | ||
| ENST00000700557.2:n.160A>G | ||
| ENST00000700559.2:c.2068A>G | ENSP00000515065.2:p.Thr690Ala | |
| ENST00000546498.2:n.755A>G | ||
| ENST00000549461.2:n.607A>G | ||
| ENST00000700555.1:c.499A>G | ENSP00000515062.1:p.Thr167Ala | |
| ENST00000700556.1:c.539A>G | ||
| ENST00000700557.1:c.79A>G | ENSP00000515064.1:p.Thr27Ala | |
| ENST00000700558.1:n.282A>G | ||
| ENST00000700559.1:c.1283A>G | ||
| ENST00000700560.1:n.1283A>G | ||
| ENST00000700561.1:n.1409A>G | ||
| ENST00000070846.11:c.2200A>G | ENSP00000070846.6:p.Thr734Ala | |
| ENST00000340811.9:c.2068A>G MANE Select | ENSP00000342800.5:p.Thr690Ala | |
| ENST00000070846.10:c.2200A>G | ENSP00000070846.6:p.Thr734Ala | |
| ENST00000340811.8:c.2068A>G | ENSP00000342800.4:p.Thr690Ala | |
| ENST00000549461.1:n.514A>G | ||
| ENST00000613243.1:c.2200A>G | ENSP00000478295.1:p.Thr734Ala | |
| NM_001005242.2:c.2068A>G | NP_001005242.2:p.Thr690Ala | |
| NM_004572.3:c.2200A>G , LRG_398t1:c.2200A>G | NP_004563.2:p.Thr734Ala | |
| NM_001005242.3:c.2068A>G MANE Select | NP_001005242.2:p.Thr690Ala | |
| NM_004572.4:c.2200A>G | NP_004563.2:p.Thr734Ala |