Revel Score:
ENST00000225964 (MANE Select)
0.959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50187500C>G , CM000679.2:g.50187500C>G | GRCh38 |
| NC_000017.10:g.48264861C>G , CM000679.1:g.48264861C>G | GRCh37 |
| NC_000017.9:g.45619860C>G | NCBI36 |
| NG_007400.1:g.19140G>C , LRG_1:g.19140G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3407G>C MANE Select | ENSP00000225964.6:p.Gly1136Ala | |
| ENST00000225964.9:c.3407G>C | ENSP00000225964.5:p.Gly1136Ala | |
| NM_000088.3:c.3407G>C , LRG_1t1:c.3407G>C | NP_000079.2:p.Gly1136Ala | |
| XM_005257058.3:c.3137G>C | XP_005257115.2:p.Gly1046Ala | |
| XM_005257059.3:c.2489G>C | XP_005257116.2:p.Gly830Ala | |
| XM_011524341.1:c.3209G>C | XP_011522643.1:p.Gly1070Ala | |
| XM_005257058.4:c.3137G>C | XP_005257115.2:p.Gly1046Ala | |
| XM_005257059.4:c.2489G>C | XP_005257116.2:p.Gly830Ala | |
| NM_000088.4:c.3407G>C MANE Select | NP_000079.2:p.Gly1136Ala |