Revel Score:
ENST00000274813 (MANE Select)
0.951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49453692T>C , CM000668.2:g.49453692T>C | GRCh38 |
| NC_000006.11:g.49421405T>C , CM000668.1:g.49421405T>C | GRCh37 |
| NC_000006.10:g.49529364T>C | NCBI36 |
| NG_007100.1:g.14448A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.976A>G MANE Select | ENSP00000274813.3:p.Arg326Gly | |
| ENST00000274813.3:c.976A>G | ENSP00000274813.3:p.Arg326Gly | |
| NM_000255.3:c.976A>G | NP_000246.2:p.Arg326Gly | |
| XM_005249143.2:c.976A>G | XP_005249200.1:p.Arg326Gly | |
| XM_005249143.3:c.976A>G | XP_005249200.1:p.Arg326Gly | |
| NM_000255.4:c.976A>G MANE Select | NP_000246.2:p.Arg326Gly |