Revel Score:
ENST00000303221 (MANE Select)
0.097
ENST00000510295
0.097
ENST00000508934
0.097
ENST00000514111
0.097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.50399862T>G , CM000667.2:g.50399862T>G | GRCh38 |
| NC_000005.9:g.49695696T>G , CM000667.1:g.49695696T>G | GRCh37 |
| NC_000005.8:g.49731453T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303221.10:c.963A>C MANE Select | ENSP00000302289.5:p.Lys321Asn | |
| ENST00000303221.9:c.963A>C | ENSP00000302289.5:p.Lys321Asn | |
| ENST00000505896.5:n.1382A>C | ||
| ENST00000508934.5:c.801A>C | ENSP00000425215.1:p.Lys267Asn | |
| ENST00000514111.1:c.813A>C | ENSP00000426404.1:p.Lys271Asn | |
| NM_198449.2:c.963A>C | NP_940851.1:p.Lys321Asn | |
| XM_011543146.1:c.813A>C | XP_011541448.1:p.Lys271Asn | |
| XM_011543146.2:c.813A>C | XP_011541448.1:p.Lys271Asn | |
| NM_198449.3:c.963A>C MANE Select | NP_940851.1:p.Lys321Asn |