Revel Score:
ENST00000262464 (MANE Select)
0.622
ENST00000508053
0.622
ENST00000507835
0.622
ENST00000508989
0.622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335552G>C , CM000667.2:g.128335552G>C | GRCh38 |
| NC_000005.9:g.127671244G>C , CM000667.1:g.127671244G>C | GRCh37 |
| NC_000005.8:g.127699143G>C | NCBI36 |
| NG_008750.1:g.207492C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.534C>G | ||
| ENST00000703785.1:n.615C>G | ||
| ENST00000262464.9:c.3750C>G MANE Select | ENSP00000262464.4:p.Asn1250Lys | |
| ENST00000262464.8:c.3750C>G | ENSP00000262464.4:p.Asn1250Lys | |
| ENST00000507835.5:c.300C>G | ENSP00000426839.1:p.Asn100Lys | |
| ENST00000508053.5:c.3750C>G | ENSP00000424571.1:p.Asn1250Lys | |
| ENST00000508989.5:c.3651C>G | ENSP00000425596.1:p.Asn1217Lys | |
| ENST00000619499.4:c.3747C>G | ENSP00000482132.1:p.Asn1249Lys | |
| NM_001999.3:c.3750C>G | NP_001990.2:p.Asn1250Lys | |
| XM_017009228.2:c.3597C>G | XP_016864717.1:p.Asn1199Lys | |
| NM_001999.4:c.3750C>G MANE Select | NP_001990.2:p.Asn1250Lys |