Revel Score:
ENST00000324071 (MANE Select)
0.049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40991441A>C , CM000681.2:g.40991441A>C | GRCh38 |
| NC_000019.9:g.41497346A>C , CM000681.1:g.41497346A>C | GRCh37 |
| NC_000019.8:g.46189186A>C | NCBI36 |
| NG_007929.1:g.5143A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.136A>C MANE Select | ENSP00000324648.2:p.Met46Leu | |
| ENST00000598834.2:c.38A>C | ||
| ENST00000324071.8:c.136A>C | ENSP00000324648.2:p.Met46Leu | |
| ENST00000598834.1:n.38A>C | ||
| NM_000767.4:c.136A>C | NP_000758.1:p.Met46Leu | |
| XM_005258569.3:c.136A>C | XP_005258626.1:p.Met46Leu | |
| XM_006723050.2:c.136A>C | XP_006723113.1:p.Met46Leu | |
| XM_011526546.1:c.136A>C | XP_011524848.1:p.Met46Leu | |
| XM_011526547.1:c.136A>C | XP_011524849.1:p.Met46Leu | |
| XM_011526548.1:c.136A>C | XP_011524850.1:p.Met46Leu | |
| NM_000767.5:c.136A>C MANE Select | NP_000758.1:p.Met46Leu |