Revel Score:
ENST00000310581 (MANE Select)
0.180
ENST00000296820
0.180
ENST00000334602
0.180
ENST00000508104
0.180
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00046608 (SAS)
Genomes Max Group AF
0.00133453 (EAS)
Exomes Max Group AF
0.0003905 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1278672T>C , CM000667.2:g.1278672T>C | GRCh38 |
| NC_000005.9:g.1278787T>C , CM000667.1:g.1278787T>C | GRCh37 |
| NC_000005.8:g.1331787T>C | NCBI36 |
| NG_009265.1:g.21376A>G , LRG_343:g.21376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2255A>G MANE Select | ENSP00000309572.5:p.His752Arg | |
| ENST00000656021.1:c.*1801A>G | ENSP00000499759.1:n.*1801A>G | |
| ENST00000310581.9:c.2255A>G | ENSP00000309572.5:p.His752Arg | |
| ENST00000334602.10:c.2255A>G | ENSP00000334346.6:p.His752Arg | |
| ENST00000460137.6:c.2219A>G | ENSP00000425003.1:p.His740Arg | |
| ENST00000484238.6:n.1068A>G | ||
| ENST00000508104.2:c.2255A>G | ENSP00000426042.2:p.His752Arg | |
| NM_001193376.1:c.2255A>G | NP_001180305.1:p.His752Arg | |
| NM_198253.2:c.2255A>G , LRG_343t1:c.2255A>G | NP_937983.2:p.His752Arg | |
| XM_011514104.1:c.725A>G | XP_011512406.1:p.His242Arg | |
| XM_011514105.1:c.611A>G | XP_011512407.1:p.His204Arg | |
| XM_011514106.1:c.611A>G | XP_011512408.1:p.His204Arg | |
| NR_149162.1:n.2313A>G | ||
| NR_149163.1:n.2277A>G | ||
| NM_001193376.2:c.2255A>G | NP_001180305.1:p.His752Arg | |
| NM_198253.3:c.2255A>G MANE Select | NP_937983.2:p.His752Arg | |
| NR_149162.2:n.2334A>G | ||
| NR_149163.2:n.2298A>G | ||
| NM_001193376.3:c.2255A>G | NP_001180305.1:p.His752Arg | |
| NR_149162.3:n.2334A>G | ||
| NR_149163.3:n.2298A>G |