Revel Score:
ENST00000264193
0.974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585633T>C , CM000665.2:g.98585633T>C | GRCh38 |
| NC_000003.11:g.98304477T>C , CM000665.1:g.98304477T>C | GRCh37 |
| NC_000003.10:g.99787167T>C | NCBI36 |
| NG_015994.1:g.12979A>G | |
| NG_015994.2:g.12979A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.980A>G MANE Select | ENSP00000497326.1:p.His327Arg | |
| ENST00000264193.2:c.980A>G | ENSP00000264193.2:p.His327Arg | |
| ENST00000510489.1:n.230A>G | ||
| NM_000097.5:c.980A>G | NP_000088.3:p.His327Arg | |
| XM_005247125.3:c.980A>G | XP_005247182.1:p.His327Arg | |
| NM_000097.7:c.980A>G MANE Select | NP_000088.3:p.His327Arg | |
| XM_005247125.4:c.980A>G | XP_005247182.1:p.His327Arg | |
| XR_001740025.2:n.1151A>G | ||
| XR_001740026.1:n.1715A>G | ||
| XR_001740027.1:n.1255A>G | ||
| XR_001740028.1:n.1221A>G |