Revel Score:
ENST00000327047 (MANE Select)
0.708
ENST00000328863
0.708
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972582C>G , CM000665.2:g.150972582C>G | GRCh38 |
| NC_000003.11:g.150690369C>G , CM000665.1:g.150690369C>G | GRCh37 |
| NC_000003.10:g.152173059C>G | NCBI36 |
| NG_009168.1:g.5418G>C , LRG_700:g.5418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.127G>C MANE Select | ENSP00000322280.1:p.Gly43Arg | |
| ENST00000468836.2:c.103G>C | ENSP00000419892.2:p.Gly35Arg | |
| ENST00000327047.5:c.127G>C | ENSP00000322280.1:p.Gly43Arg | |
| ENST00000328863.8:c.127G>C | ENSP00000329158.4:p.Gly43Arg | |
| ENST00000468836.1:c.-274G>C | ENSP00000419892.1:n.-274G>C | |
| ENST00000472224.1:n.133G>C | ||
| NM_001195794.1:c.127G>C , LRG_700t1:c.127G>C | NP_001182723.1:p.Gly43Arg | |
| NM_001256819.1:c.127G>C | NP_001243748.1:p.Gly43Arg | |
| NM_174878.2:c.127G>C | NP_777367.1:p.Gly43Arg | |
| NR_046380.2:n.418G>C | ||
| XR_924167.1:n.439G>C | ||
| NM_001256819.2:c.127G>C | NP_001243748.1:p.Gly43Arg | |
| NM_174878.3:c.127G>C MANE Select | NP_777367.1:p.Gly43Arg | |
| NR_046380.3:n.146G>C |