Revel Score:
ENST00000359596 (MANE Select)
0.774
ENST00000355481
0.774
ENST00000360985
0.774
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38494609A>C , CM000681.2:g.38494609A>C | GRCh38 |
| NC_000019.9:g.38985249A>C , CM000681.1:g.38985249A>C | GRCh37 |
| NC_000019.8:g.43677089A>C | NCBI36 |
| NG_008866.1:g.65910A>C , LRG_766:g.65910A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.6532A>C | ENSP00000471601.2:p.Met2178Leu | |
| ENST00000359596.8:c.6532A>C MANE Select | ENSP00000352608.2:p.Met2178Leu | |
| ENST00000355481.8:c.6532A>C | ENSP00000347667.3:p.Met2178Leu | |
| ENST00000359596.7:c.6532A>C | ENSP00000352608.2:p.Met2178Leu | |
| ENST00000360985.7:c.6529A>C | ENSP00000354254.4:p.Met2177Leu | |
| NM_000540.2:c.6532A>C , LRG_766t1:c.6532A>C | NP_000531.2:p.Met2178Leu | |
| NM_001042723.1:c.6532A>C | NP_001036188.1:p.Met2178Leu | |
| XM_006723317.1:c.6532A>C | XP_006723380.1:p.Met2178Leu | |
| XM_006723319.1:c.6532A>C | XP_006723382.1:p.Met2178Leu | |
| XM_011527204.1:c.6529A>C | XP_011525506.1:p.Met2177Leu | |
| XM_011527205.1:c.6532A>C | XP_011525507.1:p.Met2178Leu | |
| XM_006723317.2:c.6532A>C | XP_006723380.1:p.Met2178Leu | |
| XM_006723319.2:c.6532A>C | XP_006723382.1:p.Met2178Leu | |
| XM_011527205.2:c.6532A>C | XP_011525507.1:p.Met2178Leu | |
| XR_001753735.1:n.6615A>C | ||
| NM_000540.3:c.6532A>C MANE Select | NP_000531.2:p.Met2178Leu | |
| NM_001042723.2:c.6532A>C | NP_001036188.1:p.Met2178Leu |