Revel Score:
ENST00000376146
0.064
ENST00000542852
0.064
ENST00000376148 (MANE Select)
0.064
ENST00000376145
0.064
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31558135C>G , CM000668.2:g.31558135C>G | GRCh38 |
| NC_000006.11:g.31525912C>G , CM000668.1:g.31525912C>G | GRCh37 |
| NC_000006.10:g.31633891C>G | NCBI36 |
| NG_012344.1:g.16285C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376148.9:c.670C>G MANE Select | ENSP00000365318.4:p.Arg224Gly | |
| ENST00000376145.8:c.625C>G | ENSP00000365315.4:p.Arg209Gly | |
| ENST00000376146.8:c.601C>G | ENSP00000365316.4:p.Arg201Gly | |
| ENST00000376148.8:c.670C>G | ENSP00000365318.4:p.Arg224Gly | |
| NM_001144961.1:c.625C>G | NP_001138433.1:p.Arg209Gly | |
| NM_001144962.1:c.601C>G | NP_001138434.1:p.Arg201Gly | |
| NM_001144963.1:c.556C>G | NP_001138435.1:p.Arg186Gly | |
| NM_005007.3:c.670C>G | NP_004998.3:p.Arg224Gly | |
| XR_926695.1:n.117-7576G>C | ||
| NM_005007.4:c.670C>G MANE Select | NP_004998.3:p.Arg224Gly | |
| NM_001144961.2:c.625C>G | NP_001138433.1:p.Arg209Gly | |
| NM_001144962.2:c.601C>G | NP_001138434.1:p.Arg201Gly | |
| NM_001144963.2:c.556C>G | NP_001138435.1:p.Arg186Gly |