Revel Score:
ENST00000356433 (MANE Select)
0.948
ENST00000205143
0.948
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507081G>A , CM000681.2:g.39507081G>A | GRCh38 |
| NC_000019.9:g.39997721G>A , CM000681.1:g.39997721G>A | GRCh37 |
| NC_000019.8:g.44689561G>A | NCBI36 |
| NG_008256.1:g.13165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1136G>A MANE Select | ENSP00000348810.4:p.Cys379Tyr | |
| ENST00000205143.4:c.1136G>A | ENSP00000205143.3:p.Cys379Tyr | |
| ENST00000356433.9:c.1136G>A | ENSP00000348810.4:p.Cys379Tyr | |
| ENST00000596614.5:c.452G>A | ENSP00000471688.1:p.Cys151Tyr | |
| NM_016941.3:c.1136G>A | NP_058637.1:p.Cys379Tyr | |
| NM_203486.2:c.1136G>A | NP_982353.1:p.Cys379Tyr | |
| NM_016941.4:c.1136G>A | NP_058637.1:p.Cys379Tyr | |
| NM_203486.3:c.1136G>A MANE Select | NP_982353.1:p.Cys379Tyr |