Revel Score:
ENST00000310581 (MANE Select)
0.223
ENST00000296820
0.223
ENST00000334602
0.223
ENST00000508104
0.223
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000773 (AMR)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.00010427 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278786G>A , CM000667.2:g.1278786G>A | GRCh38 |
| NC_000005.9:g.1278901G>A , CM000667.1:g.1278901G>A | GRCh37 |
| NC_000005.8:g.1331901G>A | NCBI36 |
| NG_009265.1:g.21262C>T , LRG_343:g.21262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2141C>T MANE Select | ENSP00000309572.5:p.Thr714Met | |
| ENST00000656021.1:c.*1687C>T | ENSP00000499759.1:n.*1687C>T | |
| ENST00000310581.9:c.2141C>T | ENSP00000309572.5:p.Thr714Met | |
| ENST00000334602.10:c.2141C>T | ENSP00000334346.6:p.Thr714Met | |
| ENST00000460137.6:c.2131-26C>T | ENSP00000425003.1:n.2131-26C>T | |
| ENST00000484238.6:n.954C>T | ||
| ENST00000508104.2:c.2141C>T | ENSP00000426042.2:p.Thr714Met | |
| NM_001193376.1:c.2141C>T | NP_001180305.1:p.Thr714Met | |
| NM_198253.2:c.2141C>T , LRG_343t1:c.2141C>T | NP_937983.2:p.Thr714Met | |
| XM_011514104.1:c.611C>T | XP_011512406.1:p.Thr204Met | |
| XM_011514105.1:c.497C>T | XP_011512407.1:p.Thr166Met | |
| XM_011514106.1:c.497C>T | XP_011512408.1:p.Thr166Met | |
| NR_149162.1:n.2199C>T | ||
| NR_149163.1:n.2189-26C>T | ||
| NM_001193376.2:c.2141C>T | NP_001180305.1:p.Thr714Met | |
| NM_198253.3:c.2141C>T MANE Select | NP_937983.2:p.Thr714Met | |
| NR_149162.2:n.2220C>T | ||
| NR_149163.2:n.2210-26C>T | ||
| NM_001193376.3:c.2141C>T | NP_001180305.1:p.Thr714Met | |
| NR_149162.3:n.2220C>T | ||
| NR_149163.3:n.2210-26C>T |