Revel Score:
ENST00000409817
0.269
ENST00000241393 (MANE Select)
0.269
ENST00000537957
0.269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136114928G>C , CM000664.2:g.136114928G>C | GRCh38 |
| NC_000002.11:g.136872498G>C , CM000664.1:g.136872498G>C | GRCh37 |
| NC_000002.10:g.136588968G>C | NCBI36 |
| NG_011587.1:g.8228C>G , LRG_51:g.8228C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696136.1:c.988C>G | ENSP00000512428.1:p.Arg330Gly | |
| ENST00000696137.1:c.955C>G | ENSP00000512429.1:p.Arg319Gly | |
| ENST00000696152.1:c.955C>G | ENSP00000512443.1:p.Arg319Gly | |
| ENST00000696228.1:c.988C>G | ENSP00000512494.1:p.Arg330Gly | |
| ENST00000241393.4:c.1000C>G MANE Select | ENSP00000241393.3:p.Arg334Gly | |
| ENST00000241393.3:c.1000C>G | ENSP00000241393.3:p.Arg334Gly | |
| ENST00000409817.1:c.1012C>G | ENSP00000386884.1:p.Arg338Gly | |
| ENST00000466288.1:n.1194C>G | ||
| NM_001008540.1:c.1012C>G | NP_001008540.1:p.Arg338Gly | |
| NM_003467.2:c.1000C>G , LRG_51t1:c.1000C>G | NP_003458.1:p.Arg334Gly | |
| NM_001008540.2:c.1012C>G | NP_001008540.1:p.Arg338Gly | |
| NM_001348056.1:c.1213C>G | NP_001334985.1:p.Arg405Gly | |
| NM_001348059.1:c.1099C>G | NP_001334988.1:p.Arg367Gly | |
| NM_001348060.1:c.955C>G | NP_001334989.1:p.Arg319Gly | |
| NM_001348056.2:c.1213C>G | NP_001334985.1:p.Arg405Gly | |
| NM_001348059.2:c.1099C>G | NP_001334988.1:p.Arg367Gly | |
| NM_001348060.2:c.955C>G | NP_001334989.1:p.Arg319Gly | |
| NM_003467.3:c.1000C>G MANE Select | NP_003458.1:p.Arg334Gly |