Revel Score:
ENST00000359999
0.978
ENST00000373631 (MANE Select)
0.978
ENST00000373629
0.978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123370939G>C , CM000671.2:g.123370939G>C | GRCh38 |
| NC_000009.11:g.126133218G>C , CM000671.1:g.126133218G>C | GRCh37 |
| NC_000009.10:g.125173039G>C | NCBI36 |
| NG_051311.1:g.21875G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.1886G>C MANE Select | ENSP00000362734.3:p.Cys629Ser | |
| ENST00000359999.7:c.1886G>C | ENSP00000353092.3:p.Cys629Ser | |
| ENST00000373631.7:c.1886G>C | ENSP00000362734.3:p.Cys629Ser | |
| ENST00000460253.1:c.890G>C | ENSP00000435279.1:p.Cys297Ser | |
| NM_173689.6:c.1886G>C | NP_775960.4:p.Cys629Ser | |
| NR_104603.1:n.1000G>C | ||
| XM_005251934.1:c.890G>C | XP_005251991.1:p.Cys297Ser | |
| XM_011518556.1:c.1886G>C | XP_011516858.1:p.Cys629Ser | |
| XM_011518557.1:c.1691G>C | XP_011516859.1:p.Cys564Ser | |
| XM_011518558.1:c.1691G>C | XP_011516860.1:p.Cys564Ser | |
| XM_005251934.3:c.890G>C | XP_005251991.1:p.Cys297Ser | |
| XM_011518556.3:c.1886G>C | XP_011516858.1:p.Cys629Ser | |
| XM_011518557.3:c.1691G>C | XP_011516859.1:p.Cys564Ser | |
| XM_011518558.3:c.1691G>C | XP_011516860.1:p.Cys564Ser | |
| NM_173689.7:c.1886G>C MANE Select | NP_775960.4:p.Cys629Ser | |
| NR_104603.2:n.1000G>C |