COSMIC:
COSM5063741 (not active)
Revel Score:
ENST00000371817 (MANE Select)
0.535
ENST00000355306
0.535
ENST00000371820
0.234
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020573 (EAS)
Exomes Max Group AF
0.00023278 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134824666G>A , CM000671.2:g.134824666G>A | GRCh38 |
| NC_000009.11:g.137716512G>A , CM000671.1:g.137716512G>A | GRCh37 |
| NC_000009.10:g.136856333G>A | NCBI36 |
| NG_008030.1:g.187861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4765G>A | ENSP00000360885.4:p.Ala1589Thr | |
| ENST00000371817.8:c.4765G>A MANE Select | ENSP00000360882.3:p.Ala1589Thr | |
| ENST00000371817.7:c.4765G>A | ENSP00000360882.3:p.Ala1589Thr | |
| ENST00000371820.3:c.23G>A | ||
| ENST00000460264.5:n.233G>A | ||
| ENST00000618395.4:c.4765G>A | ENSP00000481360.1:p.Ala1589Thr | |
| NM_000093.4:c.4765G>A | NP_000084.3:p.Ala1589Thr | |
| NM_001278074.1:c.4765G>A | NP_001265003.1:p.Ala1589Thr | |
| NR_103451.2:n.71-4457C>T | ||
| XR_929712.1:n.5167G>A | ||
| XR_929713.1:n.5167G>A | ||
| XM_017014266.2:c.4765G>A | XP_016869755.1:p.Ala1589Thr | |
| XR_001746183.1:n.5163G>A | ||
| NM_000093.5:c.4765G>A MANE Select | NP_000084.3:p.Ala1589Thr |