Revel Score:
ENST00000304636 (MANE Select)
0.936
ENST00000317840
0.936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010204G>C , CM000664.2:g.189010204G>C | GRCh38 |
| NC_000002.11:g.189874930G>C , CM000664.1:g.189874930G>C | GRCh37 |
| NC_000002.10:g.189583175G>C | NCBI36 |
| NG_007404.1:g.40832G>C , LRG_3:g.40832G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3751G>C | ENSP00000415346.2:p.Gly1251Arg | |
| ENST00000304636.9:c.3850G>C MANE Select | ENSP00000304408.4:p.Gly1284Arg | |
| ENST00000304636.7:c.3850G>C | ENSP00000304408.3:p.Gly1284Arg | |
| ENST00000317840.9:c.2941G>C | ENSP00000315243.6:p.Gly981Arg | |
| ENST00000487010.1:n.947G>C | ||
| NM_000090.3:c.3850G>C , LRG_3t1:c.3850G>C | NP_000081.1:p.Gly1284Arg | |
| NM_000090.4:c.3850G>C MANE Select | NP_000081.2:p.Gly1284Arg |