Revel Score:
ENST00000528176
0.946
ENST00000307998 (MANE Select)
0.946
ENST00000526624
0.946
ENST00000527378
0.946
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65871355C>T , CM000673.2:g.65871355C>T | GRCh38 |
| NC_000011.9:g.65638826C>T , CM000673.1:g.65638826C>T | GRCh37 |
| NC_000011.8:g.65395402C>T | NCBI36 |
| NG_012304.2:g.6580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.169G>A MANE Select | ENSP00000309953.6:p.Glu57Lys | |
| ENST00000307998.10:c.169G>A | ENSP00000309953.6:p.Glu57Lys | |
| ENST00000526624.5:c.169G>A | ENSP00000435419.1:p.Glu57Lys | |
| ENST00000527378.1:c.169G>A | ENSP00000435963.1:p.Glu57Lys | |
| ENST00000528176.5:c.169G>A | ENSP00000434151.1:p.Glu57Lys | |
| ENST00000530850.1:c.158G>A | ENSP00000437238.1:p.Arg53Gln | |
| ENST00000531005.5:n.665G>A | ||
| ENST00000531972.5:c.169G>A | ENSP00000435295.1:p.Glu57Lys | |
| ENST00000533347.5:c.215G>A | ENSP00000435823.1:p.Arg72Gln | |
| NM_016938.4:c.169G>A | NP_058634.4:p.Glu57Lys | |
| NR_037718.1:n.428G>A | ||
| NM_016938.5:c.169G>A MANE Select | NP_058634.4:p.Glu57Lys | |
| NR_037718.2:n.294G>A |