Revel Score:
ENST00000442544 (MANE Select)
0.167
ENST00000304775
0.167
ENST00000412726
0.167
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53339775A>T , CM000680.2:g.53339775A>T | GRCh38 |
| NC_000018.9:g.50866145A>T , CM000680.1:g.50866145A>T | GRCh37 |
| NC_000018.8:g.49120143A>T | NCBI36 |
| NG_013341.1:g.1004604A>T | |
| NG_013341.2:g.1004604A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.2227A>T MANE Select | ENSP00000389140.2:p.Met743Leu | |
| ENST00000304775.12:c.2028A>T | ||
| ENST00000412726.5:c.2158A>T | ENSP00000397322.2:p.Met720Leu | |
| ENST00000442544.6:c.2227A>T | ENSP00000389140.2:p.Met743Leu | |
| ENST00000581580.5:c.1192A>T | ENSP00000464582.1:p.Met398Leu | |
| NM_005215.3:c.2227A>T | NP_005206.2:p.Met743Leu | |
| XM_011525843.1:c.2227A>T | XP_011524145.1:p.Met743Leu | |
| XM_011525844.1:c.1192A>T | XP_011524146.1:p.Met398Leu | |
| XM_011525845.1:c.2227A>T | XP_011524147.1:p.Met743Leu | |
| XM_011525846.1:c.2227A>T | XP_011524148.1:p.Met743Leu | |
| XM_011525844.2:c.1192A>T | XP_011524146.1:p.Met398Leu | |
| XM_017025568.1:c.2227A>T | XP_016881057.1:p.Met743Leu | |
| XM_017025569.1:c.2227A>T | XP_016881058.1:p.Met743Leu | |
| XM_017025570.1:c.1192A>T | XP_016881059.1:p.Met398Leu | |
| NM_005215.4:c.2227A>T MANE Select | NP_005206.2:p.Met743Leu |