Revel Score:
ENST00000389048 (MANE Select)
0.020
ENST00000431873
0.020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29717666C>G , CM000664.2:g.29717666C>G | GRCh38 |
| NC_000002.11:g.29940532C>G , CM000664.1:g.29940532C>G | GRCh37 |
| NC_000002.10:g.29794036C>G | NCBI36 |
| NG_009445.1:g.208901G>C , LRG_488:g.208901G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.699G>C MANE Select | ENSP00000373700.3:p.Met233Ile | |
| ENST00000389048.7:c.699G>C | ENSP00000373700.3:p.Met233Ile | |
| ENST00000618119.4:c.-433G>C | ENSP00000482733.1:n.-433G>C | |
| NM_004304.4:c.699G>C | NP_004295.2:p.Met233Ile | |
| XR_001738688.2:n.1629G>C | ||
| NM_004304.5:c.699G>C MANE Select | NP_004295.2:p.Met233Ile |