Revel Score:
ENST00000259407 (MANE Select)
0.095
ENST00000395051
0.095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101362718T>C , CM000671.2:g.101362718T>C | GRCh38 |
| NC_000009.11:g.104125000T>C , CM000671.1:g.104125000T>C | GRCh37 |
| NC_000009.10:g.103164821T>C | NCBI36 |
| NG_009774.1:g.27288A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.967A>G MANE Select | ENSP00000259407.2:p.Ile323Val | |
| ENST00000395051.4:c.967A>G | ENSP00000378491.3:p.Ile323Val | |
| ENST00000674556.1:c.967A>G | ENSP00000501610.1:p.Ile323Val | |
| ENST00000674791.1:c.762+205A>G | ENSP00000501644.1:n.762+205A>G | |
| ENST00000674909.1:c.804+163A>G | ENSP00000502812.1:n.804+163A>G | |
| ENST00000259407.6:c.967A>G | ENSP00000259407.2:p.Ile323Val | |
| ENST00000395051.3:c.967A>G | ENSP00000378491.3:p.Ile323Val | |
| NM_001127610.1:c.967A>G | NP_001121082.1:p.Ile323Val | |
| NM_001701.3:c.967A>G | NP_001692.1:p.Ile323Val | |
| NM_001127610.2:c.967A>G | NP_001121082.1:p.Ile323Val | |
| NM_001374715.1:c.967A>G | NP_001361644.1:p.Ile323Val | |
| NM_001701.4:c.967A>G MANE Select | NP_001692.1:p.Ile323Val |