Revel Score:
ENST00000264193
0.970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98588831C>G , CM000665.2:g.98588831C>G | GRCh38 |
| NC_000003.11:g.98307675C>G , CM000665.1:g.98307675C>G | GRCh37 |
| NC_000003.10:g.99790365C>G | NCBI36 |
| NG_015994.1:g.9781G>C | |
| NG_015994.2:g.9781G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.835G>C MANE Select | ENSP00000497326.1:p.Gly279Arg | |
| ENST00000264193.2:c.835G>C | ENSP00000264193.2:p.Gly279Arg | |
| NM_000097.5:c.835G>C | NP_000088.3:p.Gly279Arg | |
| XM_005247125.3:c.835G>C | XP_005247182.1:p.Gly279Arg | |
| XM_011512437.1:c.835G>C | XP_011510739.1:p.Gly279Arg | |
| NM_000097.7:c.835G>C MANE Select | NP_000088.3:p.Gly279Arg | |
| XM_005247125.4:c.835G>C | XP_005247182.1:p.Gly279Arg | |
| XR_001740025.2:n.1006G>C | ||
| XR_001740026.1:n.1011G>C | ||
| XR_001740027.1:n.1110G>C | ||
| XR_001740028.1:n.1076G>C |