COSMIC:
COSM6411724 (not active)
Revel Score:
ENST00000371817 (MANE Select)
0.772
ENST00000355306
0.772
ENST00000371820
0.644
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00265133 (AFR)
Genomes Max Group AF
0.00239942 (AFR)
Exomes Max Group AF
0.00267708 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134824807G>A , CM000671.2:g.134824807G>A | GRCh38 |
| NC_000009.11:g.137716653G>A , CM000671.1:g.137716653G>A | GRCh37 |
| NC_000009.10:g.136856474G>A | NCBI36 |
| NG_008030.1:g.188002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4906G>A | ENSP00000360885.4:p.Ala1636Thr | |
| ENST00000371817.8:c.4906G>A MANE Select | ENSP00000360882.3:p.Ala1636Thr | |
| ENST00000371817.7:c.4906G>A | ENSP00000360882.3:p.Ala1636Thr | |
| ENST00000371820.3:c.164G>A | ||
| ENST00000460264.5:n.374G>A | ||
| ENST00000465877.1:n.86G>A | ||
| ENST00000618395.4:c.4906G>A | ENSP00000481360.1:p.Ala1636Thr | |
| NM_000093.4:c.4906G>A | NP_000084.3:p.Ala1636Thr | |
| NM_001278074.1:c.4906G>A | NP_001265003.1:p.Ala1636Thr | |
| NR_103451.2:n.71-4598C>T | ||
| XR_929712.1:n.5308G>A | ||
| XR_929713.1:n.5308G>A | ||
| XM_017014266.2:c.4906G>A | XP_016869755.1:p.Ala1636Thr | |
| XR_001746183.1:n.5304G>A | ||
| NM_000093.5:c.4906G>A MANE Select | NP_000084.3:p.Ala1636Thr |