Revel Score:
ENST00000225964 (MANE Select)
0.990
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50191840C>G , CM000679.2:g.50191840C>G | GRCh38 |
| NC_000017.10:g.48269201C>G , CM000679.1:g.48269201C>G | GRCh37 |
| NC_000017.9:g.45624200C>G | NCBI36 |
| NG_007400.1:g.14800G>C , LRG_1:g.14800G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2075G>C MANE Select | ENSP00000225964.6:p.Gly692Ala | |
| ENST00000225964.9:c.2075G>C | ENSP00000225964.5:p.Gly692Ala | |
| ENST00000476387.1:n.424G>C | ||
| NM_000088.3:c.2075G>C , LRG_1t1:c.2075G>C | NP_000079.2:p.Gly692Ala | |
| XM_005257058.3:c.2075G>C | XP_005257115.2:p.Gly692Ala | |
| XM_005257059.3:c.1157G>C | XP_005257116.2:p.Gly386Ala | |
| XM_011524341.1:c.1877G>C | XP_011522643.1:p.Gly626Ala | |
| XM_005257058.4:c.2075G>C | XP_005257115.2:p.Gly692Ala | |
| XM_005257059.4:c.1157G>C | XP_005257116.2:p.Gly386Ala | |
| NM_000088.4:c.2075G>C MANE Select | NP_000079.2:p.Gly692Ala |