Revel Score:
ENST00000355857 (MANE Select)
0.238
ENST00000535617
0.238
ENST00000535757
0.238
ENST00000409094
0.238
ENST00000311521
0.238
ENST00000542275
0.238
ENST00000393103
0.238
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.119372265A>C , CM000664.2:g.119372265A>C | GRCh38 |
| NC_000002.11:g.120129841A>C , CM000664.1:g.120129841A>C | GRCh37 |
| NC_000002.10:g.119846311A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355857.8:c.211A>C MANE Select | ENSP00000348116.3:p.Met71Leu | |
| ENST00000311521.8:c.262A>C | ENSP00000311117.4:p.Met88Leu | |
| ENST00000355857.7:c.211A>C | ENSP00000348116.3:p.Met71Leu | |
| ENST00000393103.2:c.214A>C | ENSP00000376815.2:p.Met72Leu | |
| ENST00000409094.5:c.262A>C | ENSP00000386486.1:p.Met88Leu | |
| ENST00000460901.1:n.585A>C | ||
| ENST00000475783.1:n.607A>C | ||
| ENST00000535617.5:c.241A>C | ENSP00000442917.2:p.Met81Leu | |
| ENST00000535757.5:c.262A>C | ENSP00000439012.1:p.Met88Leu | |
| ENST00000542275.5:c.379A>C | ENSP00000440698.2:p.Met127Leu | |
| ENST00000627093.2:c.337A>C | ENSP00000486281.1:p.Met113Leu | |
| ENST00000627305.2:c.394A>C | ENSP00000486361.1:p.Met132Leu | |
| NM_001079862.2:c.211A>C | NP_001073331.1:p.Met71Leu | |
| NM_001079863.1:c.214A>C | NP_001073332.1:p.Met72Leu | |
| NM_001178017.1:c.394A>C | NP_001171488.1:p.Met132Leu | |
| NM_001178041.2:c.337A>C | NP_001171512.1:p.Met113Leu | |
| NM_001178042.2:c.262A>C | NP_001171513.1:p.Met88Leu | |
| NM_001178043.2:c.241A>C | NP_001171514.1:p.Met81Leu | |
| NM_001282633.1:c.262A>C | NP_001269562.1:p.Met88Leu | |
| NM_001282634.1:c.262A>C | NP_001269563.1:p.Met88Leu | |
| NM_001282635.1:c.262A>C | NP_001269564.1:p.Met88Leu | |
| NM_001282636.1:c.139A>C | NP_001269565.1:p.Met47Leu | |
| NM_020548.7:c.262A>C | NP_065438.1:p.Met88Leu | |
| NR_104221.1:n.618A>C | ||
| NM_001352432.1:c.139A>C | NP_001339361.1:p.Met47Leu | |
| NM_001079862.3:c.211A>C | NP_001073331.1:p.Met71Leu | |
| NM_001079863.2:c.214A>C | NP_001073332.1:p.Met72Leu | |
| NM_001178017.3:c.394A>C | NP_001171488.1:p.Met132Leu | |
| NM_001178041.3:c.337A>C | NP_001171512.1:p.Met113Leu | |
| NM_001178042.3:c.262A>C | NP_001171513.1:p.Met88Leu | |
| NM_001178043.3:c.241A>C | NP_001171514.1:p.Met81Leu | |
| NM_001282633.2:c.262A>C | NP_001269562.1:p.Met88Leu | |
| NM_001282634.2:c.262A>C | NP_001269563.1:p.Met88Leu | |
| NM_001282635.2:c.262A>C | NP_001269564.1:p.Met88Leu | |
| NM_001282636.2:c.139A>C | NP_001269565.1:p.Met47Leu | |
| NM_001352432.2:c.139A>C | NP_001339361.1:p.Met47Leu | |
| NM_020548.8:c.262A>C | NP_065438.1:p.Met88Leu | |
| NM_001079862.4:c.211A>C MANE Select | NP_001073331.1:p.Met71Leu | |
| NM_001079863.3:c.214A>C | NP_001073332.1:p.Met72Leu | |
| NM_001178041.4:c.337A>C | NP_001171512.1:p.Met113Leu | |
| NM_001178042.4:c.262A>C | NP_001171513.1:p.Met88Leu | |
| NM_001178043.4:c.241A>C | NP_001171514.1:p.Met81Leu | |
| NM_001282633.3:c.262A>C | NP_001269562.1:p.Met88Leu | |
| NM_001282634.3:c.262A>C | NP_001269563.1:p.Met88Leu | |
| NM_001282635.3:c.262A>C | NP_001269564.1:p.Met88Leu | |
| NM_001282636.3:c.139A>C | NP_001269565.1:p.Met47Leu | |
| NM_001352432.3:c.139A>C | NP_001339361.1:p.Met47Leu | |
| NM_020548.9:c.262A>C | NP_065438.1:p.Met88Leu |