Revel Score:
ENST00000330287
0.752
ENST00000360256 (MANE Select)
0.752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863125G>T , CM000685.2:g.154863125G>T | GRCh38 |
| NC_000023.10:g.154091400G>T , CM000685.1:g.154091400G>T | GRCh37 |
| NC_000023.9:g.153744594G>T | NCBI36 |
| NG_011403.1:g.164599C>A | |
| NG_011403.2:g.164599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6532C>A MANE Select | ENSP00000353393.4:p.Arg2178Ser | |
| ENST00000644698.1:c.265C>A | ENSP00000495706.1:p.Arg89Ser | |
| ENST00000330287.10:c.127C>A | ENSP00000327895.6:p.Arg43Ser | |
| ENST00000360256.8:c.6532C>A | ENSP00000353393.4:p.Arg2178Ser | |
| NM_000132.3:c.6532C>A | NP_000123.1:p.Arg2178Ser | |
| NM_019863.2:c.127C>A | NP_063916.1:p.Arg43Ser | |
| XM_011531126.1:c.6427C>A | XP_011529428.1:p.Arg2143Ser | |
| NM_000132.4:c.6532C>A MANE Select | NP_000123.1:p.Arg2178Ser | |
| NM_019863.3:c.127C>A | NP_063916.1:p.Arg43Ser |