Revel Score:
ENST00000340855 (MANE Select)
0.899
ENST00000537071
0.899
ENST00000541269
0.899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483135A>G , CM000685.2:g.149483135A>G | GRCh38 |
| NC_000023.10:g.148564666A>G , CM000685.1:g.148564666A>G | GRCh37 |
| NC_000023.9:g.148372571A>G | NCBI36 |
| NG_011900.3:g.27200T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1264T>C MANE Select | ENSP00000339801.6:p.Cys422Arg | |
| ENST00000651111.1:c.631T>C | ENSP00000498395.1:p.Cys211Arg | |
| ENST00000340855.10:c.1264T>C | ENSP00000339801.6:p.Cys422Arg | |
| ENST00000422081.6:c.631T>C | ENSP00000477056.1:p.Cys211Arg | |
| ENST00000441880.1:n.371T>C | ||
| NM_000202.6:c.1264T>C | NP_000193.1:p.Cys422Arg | |
| NM_001166550.2:c.994T>C | NP_001160022.1:p.Cys332Arg | |
| NM_000202.7:c.1264T>C | NP_000193.1:p.Cys422Arg | |
| NM_001166550.3:c.994T>C | NP_001160022.1:p.Cys332Arg | |
| NM_000202.8:c.1264T>C MANE Select | NP_000193.1:p.Cys422Arg | |
| NM_001166550.4:c.994T>C | NP_001160022.1:p.Cys332Arg |