Revel Score:
ENST00000272895 (MANE Select)
0.145
ENST00000389661
0.145
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000995 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011448T>C , CM000664.2:g.215011448T>C | GRCh38 |
| NC_000002.11:g.215876172T>C , CM000664.1:g.215876172T>C | GRCh37 |
| NC_000002.10:g.215584417T>C | NCBI36 |
| NG_007074.1:g.131980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2323A>G MANE Select | ENSP00000272895.7:p.Ile775Val | |
| ENST00000272895.11:c.2323A>G | ENSP00000272895.7:p.Ile775Val | |
| ENST00000389661.4:c.1369A>G | ENSP00000374312.4:p.Ile457Val | |
| NM_015657.3:c.1369A>G | NP_056472.2:p.Ile457Val | |
| NM_173076.2:c.2323A>G | NP_775099.2:p.Ile775Val | |
| NR_103740.1:n.2567A>G | ||
| XM_011510951.1:c.2323A>G | XP_011509253.1:p.Ile775Val | |
| XM_011510952.1:c.2323A>G | XP_011509254.1:p.Ile775Val | |
| XM_011510951.2:c.2323A>G | XP_011509253.1:p.Ile775Val | |
| NM_173076.3:c.2323A>G MANE Select | NP_775099.2:p.Ile775Val | |
| NR_103740.2:n.2765A>G | ||
| NM_015657.4:c.1369A>G | NP_056472.2:p.Ile457Val |