Revel Score:
ENST00000428762 (MANE Select)
0.604
ENST00000343529
0.604
ENST00000424685
0.604
ENST00000448171
0.604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103636250T>C , CM000669.2:g.103636250T>C | GRCh38 |
| NC_000007.13:g.103276697T>C , CM000669.1:g.103276697T>C | GRCh37 |
| NC_000007.12:g.103063933T>C | NCBI36 |
| NG_011877.1:g.358267A>G | |
| NG_011877.2:g.358267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.2288A>G | ENSP00000388446.3:p.Asp763Gly | |
| ENST00000428762.6:c.2288A>G MANE Select | ENSP00000392423.1:p.Asp763Gly | |
| ENST00000473457.2:n.2552A>G | ||
| ENST00000679867.1:n.2172A>G | ||
| ENST00000680712.1:n.2005A>G | ||
| ENST00000681034.1:c.2288A>G | ENSP00000506075.1:p.Asp763Gly | |
| ENST00000343529.9:c.2288A>G | ENSP00000345694.5:p.Asp763Gly | |
| ENST00000424685.2:c.2288A>G | ENSP00000388446.2:p.Asp763Gly | |
| ENST00000428762.5:c.2288A>G | ENSP00000392423.1:p.Asp763Gly | |
| NM_005045.3:c.2288A>G | NP_005036.2:p.Asp763Gly | |
| NM_173054.2:c.2288A>G | NP_774959.1:p.Asp763Gly | |
| NM_005045.4:c.2288A>G MANE Select | NP_005036.2:p.Asp763Gly | |
| NM_173054.3:c.2288A>G | NP_774959.1:p.Asp763Gly |