COSMIC:
COSM4144236 (not active)
COSM4144237 (not active)
Revel Score:
ENST00000319474
0.248
ENST00000549778
0.248
ENST00000377443 (MANE Select)
0.248
ENST00000377436
0.248
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4034172 (MID)
Genomes Max Group AF
0.39175208 (NFE)
Exomes Max Group AF
0.4002784 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8949347C>T , CM000663.2:g.8949347C>T | GRCh38 |
| NC_000001.10:g.9009406C>T , CM000663.1:g.9009406C>T | GRCh37 |
| NC_000001.9:g.8931993C>T | NCBI36 |
| NG_033975.1:g.8514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.164C>T MANE Select | ENSP00000366662.2:p.Thr55Met | |
| ENST00000377436.6:c.164C>T | ENSP00000366654.3:p.Thr55Met | |
| ENST00000377442.3:c.79+3382C>T | ENSP00000366661.2:n.79+3382C>T | |
| ENST00000377443.6:c.164C>T | ENSP00000366662.2:p.Thr55Met | |
| ENST00000476083.1:n.98+3382C>T | ||
| ENST00000480186.7:c.164C>T | ENSP00000435280.1:p.Thr55Met | |
| ENST00000549778.5:c.164C>T | ENSP00000447108.1:p.Thr55Met | |
| NM_001215.3:c.164C>T | NP_001206.2:p.Thr55Met | |
| NM_001270500.1:c.164C>T | NP_001257429.1:p.Thr55Met | |
| NM_001270501.1:c.79+3382C>T | NP_001257430.1:n.79+3382C>T | |
| NM_001270502.1:c.24+3382C>T | NP_001257431.1:n.24+3382C>T | |
| XM_011542083.1:c.176C>T | XP_011540385.1:p.Thr59Met | |
| XM_011542084.1:c.176C>T | XP_011540386.1:p.Thr59Met | |
| XM_011542083.3:c.176C>T | XP_011540385.1:p.Thr59Met | |
| XM_011542084.3:c.176C>T | XP_011540386.1:p.Thr59Met | |
| NM_001215.4:c.164C>T MANE Select | NP_001206.2:p.Thr55Met | |
| NM_001270500.2:c.164C>T | NP_001257429.1:p.Thr55Met | |
| NM_001270501.2:c.79+3382C>T | NP_001257430.1:n.79+3382C>T | |
| NM_001270502.2:c.24+3382C>T | NP_001257431.1:n.24+3382C>T |