Revel Score:
ENST00000261623 (MANE Select)
0.772
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000301 (NFE)
Exomes Max Group AF
0.0000027 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88643474G>A , CM000678.2:g.88643474G>A | GRCh38 |
| NC_000016.9:g.88709882G>A , CM000678.1:g.88709882G>A | GRCh37 |
| NC_000016.8:g.87237383G>A | NCBI36 |
| NG_007291.1:g.12576C>T , LRG_52:g.12576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696156.1:c.383C>T | ENSP00000512446.1:p.Pro128Leu | |
| ENST00000696157.1:c.*684C>T | ENSP00000512447.1:n.*684C>T | |
| ENST00000696158.1:c.*721C>T | ENSP00000512448.1:n.*721C>T | |
| ENST00000696159.1:c.*390C>T | ENSP00000512449.1:n.*390C>T | |
| ENST00000696160.1:c.494C>T | ENSP00000512450.1:p.Pro165Leu | |
| ENST00000696161.1:c.597C>T | ENSP00000512451.1:p.Pro199= | |
| ENST00000696162.1:c.*1186C>T | ENSP00000512452.1:n.*1186C>T | |
| ENST00000696163.1:c.416C>T | ENSP00000512453.1:p.Pro139Leu | |
| ENST00000261623.8:c.467C>T MANE Select | ENSP00000261623.3:p.Pro156Leu | |
| ENST00000261623.7:c.467C>T | ENSP00000261623.3:p.Pro156Leu | |
| NM_000101.3:c.467C>T | NP_000092.2:p.Pro156Leu | |
| NM_000101.4:c.467C>T MANE Select | NP_000092.2:p.Pro156Leu |