Revel Score:
ENST00000330287
0.813
ENST00000360256 (MANE Select)
0.813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863125G>C , CM000685.2:g.154863125G>C | GRCh38 |
| NC_000023.10:g.154091400G>C , CM000685.1:g.154091400G>C | GRCh37 |
| NC_000023.9:g.153744594G>C | NCBI36 |
| NG_011403.1:g.164599C>G | |
| NG_011403.2:g.164599C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6532C>G MANE Select | ENSP00000353393.4:p.Arg2178Gly | |
| ENST00000644698.1:c.265C>G | ENSP00000495706.1:p.Arg89Gly | |
| ENST00000330287.10:c.127C>G | ENSP00000327895.6:p.Arg43Gly | |
| ENST00000360256.8:c.6532C>G | ENSP00000353393.4:p.Arg2178Gly | |
| NM_000132.3:c.6532C>G | NP_000123.1:p.Arg2178Gly | |
| NM_019863.2:c.127C>G | NP_063916.1:p.Arg43Gly | |
| XM_011531126.1:c.6427C>G | XP_011529428.1:p.Arg2143Gly | |
| NM_000132.4:c.6532C>G MANE Select | NP_000123.1:p.Arg2178Gly | |
| NM_019863.3:c.127C>G | NP_063916.1:p.Arg43Gly |