Revel Score:
ENST00000388962
0.019
ENST00000550948 (MANE Select)
0.019
ENST00000228463
0.019
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108623488T>A , CM000674.2:g.108623488T>A | GRCh38 |
| NC_000012.11:g.109017264T>A , CM000674.1:g.109017264T>A | GRCh37 |
| NC_000012.10:g.107541393T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550948.2:c.820A>T MANE Select | ENSP00000447752.1:p.Met274Leu | |
| ENST00000228463.6:c.868A>T | ENSP00000228463.6:p.Met290Leu | |
| ENST00000388962.4:c.790A>T | ENSP00000373614.3:p.Met264Leu | |
| ENST00000550948.1:c.820A>T | ENSP00000447752.1:p.Met274Leu | |
| NM_001206609.1:c.868A>T | NP_001193538.1:p.Met290Leu | |
| NM_003006.4:c.820A>T MANE Select | NP_002997.2:p.Met274Leu | |
| XM_005269076.2:c.790A>T | XP_005269133.1:p.Met264Leu | |
| NM_001206609.2:c.868A>T | NP_001193538.1:p.Met290Leu |