Revel Score:
ENST00000330342 (MANE Select)
0.249
ENST00000504192
0.249
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00199957 (AFR)
Genomes Max Group AF
0.00193574 (AFR)
Exomes Max Group AF
0.00183137 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123743815A>T , CM000674.2:g.123743815A>T | GRCh38 |
| NC_000012.11:g.124228362A>T , CM000674.1:g.124228362A>T | GRCh37 |
| NC_000012.10:g.122794315A>T | NCBI36 |
| NG_012743.1:g.36498A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1069A>T MANE Select | ENSP00000332247.2:p.Met357Leu | |
| ENST00000540368.6:n.1100A>T | ||
| ENST00000674794.1:c.1157A>T | ||
| ENST00000675260.1:n.344A>T | ||
| ENST00000675344.1:c.*90A>T | ENSP00000501953.1:n.*90A>T | |
| ENST00000330342.7:c.1069A>T | ENSP00000332247.2:p.Met357Leu | |
| ENST00000504192.2:c.679A>T | ENSP00000443441.1:p.Met227Leu | |
| ENST00000536426.1:n.86A>T | ||
| ENST00000545059.5:n.3705A>T | ||
| NM_012463.3:c.1069A>T | NP_036595.2:p.Met357Leu | |
| XM_005253563.1:c.1069A>T | XP_005253620.1:p.Met357Leu | |
| XM_006719317.2:c.556A>T | XP_006719380.1:p.Met186Leu | |
| XM_006719318.2:c.247A>T | XP_006719381.1:p.Met83Leu | |
| XR_429088.1:n.1232A>T | ||
| XM_024448910.1:c.1069A>T | XP_024304678.1:p.Met357Leu | |
| XM_024448911.1:c.556A>T | XP_024304679.1:p.Met186Leu | |
| XM_024448912.1:c.247A>T | XP_024304680.1:p.Met83Leu | |
| NM_012463.4:c.1069A>T MANE Select | NP_036595.2:p.Met357Leu |