Revel Score:
ENST00000222812 (MANE Select)
0.238
ENST00000395156
0.238
ENST00000395154
0.238
ENST00000395155
0.238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73705197A>C , CM000669.2:g.73705197A>C | GRCh38 |
| NC_000007.13:g.73119527A>C , CM000669.1:g.73119527A>C | GRCh37 |
| NC_000007.12:g.72757463A>C | NCBI36 |
| NG_013360.1:g.19491T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222812.8:c.236T>G MANE Select | ENSP00000222812.3:p.Met79Arg | |
| ENST00000222812.7:c.236T>G | ENSP00000222812.3:p.Met79Arg | |
| ENST00000395154.7:c.236T>G | ENSP00000378583.3:p.Met79Arg | |
| ENST00000395155.3:c.236T>G | ENSP00000378584.3:p.Met79Arg | |
| ENST00000395156.7:c.236T>G | ENSP00000378585.3:p.Met79Arg | |
| ENST00000462135.1:n.277T>G | ||
| ENST00000470878.5:n.385T>G | ||
| ENST00000494245.1:n.269T>G | ||
| ENST00000496216.5:n.145T>G | ||
| NM_001165903.1:c.236T>G | NP_001159375.1:p.Met79Arg | |
| NM_004603.3:c.236T>G | NP_004594.1:p.Met79Arg | |
| XM_011516541.1:c.149T>G | XP_011514843.1:p.Met50Arg | |
| XR_242263.1:n.307T>G | ||
| XR_927527.1:n.307T>G | ||
| XR_927528.1:n.360T>G | ||
| XM_017012567.2:c.236T>G | XP_016868056.1:p.Met79Arg | |
| XR_242263.2:n.278T>G | ||
| XR_927527.2:n.278T>G | ||
| NM_004603.4:c.236T>G MANE Select | NP_004594.1:p.Met79Arg | |
| NM_001165903.2:c.236T>G | NP_001159375.1:p.Met79Arg |