Revel Score:
ENST00000421577
0.009
ENST00000443524
0.009
ENST00000419348
0.009
ENST00000451739 (MANE Select)
0.009
ENST00000531058
0.009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20383065A>C , CM000673.2:g.20383065A>C | GRCh38 |
| NC_000011.9:g.20404611A>C , CM000673.1:g.20404611A>C | GRCh37 |
| NC_000011.8:g.20361187A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451739.7:c.589A>C MANE Select | ENSP00000394259.2:p.Ser197Arg | |
| ENST00000419348.6:c.691A>C | ENSP00000392985.2:p.Ser231Arg | |
| ENST00000421577.6:c.589A>C | ENSP00000397752.2:p.Ser197Arg | |
| ENST00000443524.6:c.589A>C | ENSP00000387876.2:p.Ser197Arg | |
| ENST00000451739.6:c.589A>C | ENSP00000394259.2:p.Ser197Arg | |
| ENST00000531058.1:c.451A>C | ENSP00000436729.1:p.Ser151Arg | |
| ENST00000533914.1:n.849A>C | ||
| NM_001098520.1:c.691A>C | NP_001091990.1:p.Ser231Arg | |
| NM_001098521.1:c.589A>C | NP_001091991.1:p.Ser197Arg | |
| NM_001098522.1:c.589A>C | NP_001091992.1:p.Ser197Arg | |
| NM_006410.4:c.589A>C | NP_006401.3:p.Ser197Arg | |
| NM_001098520.2:c.691A>C | NP_001091990.1:p.Ser231Arg | |
| NM_001098521.2:c.589A>C | NP_001091991.1:p.Ser197Arg | |
| NM_001098522.2:c.589A>C MANE Select | NP_001091992.1:p.Ser197Arg | |
| NM_006410.5:c.589A>C | NP_006401.3:p.Ser197Arg |