COSMIC:
COSM4006328 (not active)
Revel Score:
ENST00000412585 (MANE Select)
0.195
ENST00000428231
0.195
ENST00000452596
0.195
ENST00000434333
0.195
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16155932 (EAS)
Genomes Max Group AF
0.31691547 (EAS)
Exomes Max Group AF
0.15095333 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356287T>A , CM000668.2:g.31356287T>A | GRCh38 |
| NC_000006.11:g.31324064T>A , CM000668.1:g.31324064T>A | GRCh37 |
| NC_000006.10:g.31432043T>A | NCBI36 |
| NG_023187.1:g.5926A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1972A>T | ||
| ENST00000481849.6:n.1972A>T | ||
| ENST00000497377.6:n.1972A>T | ||
| ENST00000640094.2:c.499A>T | ENSP00000491275.2:p.Thr167Ser | |
| ENST00000696558.1:c.499A>T | ENSP00000512716.1:p.Thr167Ser | |
| ENST00000696559.1:c.499A>T | ENSP00000512717.1:p.Thr167Ser | |
| ENST00000696560.1:c.499A>T | ENSP00000512718.1:p.Thr167Ser | |
| ENST00000696561.1:c.499A>T | ENSP00000512719.1:p.Thr167Ser | |
| ENST00000696562.1:c.499A>T | ENSP00000512720.1:p.Thr167Ser | |
| ENST00000412585.7:c.499A>T MANE Select | ENSP00000399168.2:p.Thr167Ser | |
| ENST00000412585.6:c.499A>T | ENSP00000399168.2:p.Thr167Ser | |
| ENST00000434333.1:c.532A>T | ENSP00000405931.1:p.Thr178Ser | |
| ENST00000474381.1:n.374A>T | ||
| ENST00000498007.1:n.765A>T | ||
| NM_005514.6:c.499A>T | NP_005505.2:p.Thr167Ser | |
| XM_011514556.1:c.532A>T | XP_011512858.1:p.Thr178Ser | |
| XM_011514557.1:c.499A>T | XP_011512859.1:p.Thr167Ser | |
| XR_926175.1:n.509A>T | ||
| NM_005514.7:c.499A>T | NP_005505.2:p.Thr167Ser | |
| NM_005514.8:c.499A>T MANE Select | NP_005505.2:p.Thr167Ser |