Revel Score:
ENST00000322507 (MANE Select)
0.129
ENST00000432784
0.129
ENST00000345356
0.129
ENST00000416123
0.129
ENST00000483888
0.129
ENST00000419671
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00081659 (NFE)
Genomes Max Group AF
0.00049447 (NFE)
Exomes Max Group AF
0.00082782 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75143335T>G , CM000668.2:g.75143335T>G | GRCh38 |
| NC_000006.11:g.75853051T>G , CM000668.1:g.75853051T>G | GRCh37 |
| NC_000006.10:g.75909771T>G | NCBI36 |
| NG_042181.1:g.67573A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.4744A>C MANE Select | ENSP00000325146.8:p.Met1582Leu | |
| ENST00000322507.12:c.4744A>C | ENSP00000325146.8:p.Met1582Leu | |
| ENST00000345356.10:c.1252A>C | ENSP00000305147.9:p.Met418Leu | |
| ENST00000416123.6:c.4744A>C | ENSP00000412864.2:p.Met1582Leu | |
| ENST00000419671.1:c.968A>C | ||
| ENST00000474564.1:n.368A>C | ||
| ENST00000483888.6:c.4744A>C | ENSP00000421216.1:p.Met1582Leu | |
| ENST00000615798.4:c.1177A>C | ENSP00000483232.1:p.Met393Leu | |
| NM_004370.5:c.4744A>C | NP_004361.3:p.Met1582Leu | |
| NM_080645.2:c.1252A>C | NP_542376.2:p.Met418Leu | |
| XM_011535434.1:c.4744A>C | XP_011533736.1:p.Met1582Leu | |
| XM_011535435.1:c.4471A>C | XP_011533737.1:p.Met1491Leu | |
| XM_011535436.1:c.1252A>C | XP_011533738.1:p.Met418Leu | |
| XM_011535436.2:c.1252A>C | XP_011533738.1:p.Met418Leu | |
| XM_017010252.2:c.4708A>C | XP_016865741.1:p.Met1570Leu | |
| NM_004370.6:c.4744A>C MANE Select | NP_004361.3:p.Met1582Leu | |
| NM_080645.3:c.1252A>C | NP_542376.2:p.Met418Leu |