COSMIC:
COSM4001507 (not active)
Revel Score:
ENST00000360507 (MANE Select)
0.024
ENST00000409789
0.024
ENST00000453038
0.024
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61089668 (NFE)
Genomes Max Group AF
0.60695037 (NFE)
Exomes Max Group AF
0.61087316 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219173034A>G , CM000664.2:g.219173034A>G | GRCh38 |
| NC_000002.11:g.220037756A>G , CM000664.1:g.220037756A>G | GRCh37 |
| NC_000002.10:g.219746000A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360507.10:c.785T>C MANE Select | ENSP00000353698.5:p.Ile262Thr | |
| ENST00000360507.9:c.785T>C | ENSP00000353698.5:p.Ile262Thr | |
| ENST00000409789.5:c.785T>C | ENSP00000386277.1:p.Ile262Thr | |
| ENST00000453038.5:c.785T>C | ENSP00000410109.1:p.Ile262Thr | |
| NM_015680.4:c.785T>C | NP_056495.3:p.Ile262Thr | |
| XM_005246462.2:c.785T>C | XP_005246519.1:p.Ile262Thr | |
| XM_005246463.3:c.785T>C | XP_005246520.1:p.Ile262Thr | |
| XM_006712419.1:c.785T>C | XP_006712482.1:p.Ile262Thr | |
| NM_001321389.1:c.785T>C | NP_001308318.1:p.Ile262Thr | |
| NM_001321390.1:c.785T>C | NP_001308319.1:p.Ile262Thr | |
| NM_001321391.1:c.785T>C | NP_001308320.1:p.Ile262Thr | |
| NM_015680.5:c.785T>C | NP_056495.3:p.Ile262Thr | |
| NR_135628.1:n.830T>C | ||
| NR_135629.1:n.888T>C | ||
| XM_024452790.1:c.815T>C | XP_024308558.1:p.Ile272Thr | |
| NM_015680.6:c.785T>C MANE Select | NP_056495.4:p.Ile262Thr | |
| NM_001321390.2:c.785T>C | NP_001308319.2:p.Ile262Thr | |
| NM_001321391.2:c.785T>C | NP_001308320.2:p.Ile262Thr | |
| NR_135628.2:n.813T>C | ||
| NR_135629.2:n.820T>C | ||
| NM_001321389.2:c.785T>C | NP_001308318.2:p.Ile262Thr |