Revel Score:
ENST00000225964 (MANE Select)
0.800
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188765G>C , CM000679.2:g.50188765G>C | GRCh38 |
| NC_000017.10:g.48266126G>C , CM000679.1:g.48266126G>C | GRCh37 |
| NC_000017.9:g.45621125G>C | NCBI36 |
| NG_007400.1:g.17875C>G , LRG_1:g.17875C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3076C>G MANE Select | ENSP00000225964.6:p.Arg1026Gly | |
| ENST00000225964.9:c.3076C>G | ENSP00000225964.5:p.Arg1026Gly | |
| ENST00000511732.1:n.20C>G | ||
| NM_000088.3:c.3076C>G , LRG_1t1:c.3076C>G | NP_000079.2:p.Arg1026Gly | |
| XM_005257058.3:c.2806C>G | XP_005257115.2:p.Arg936Gly | |
| XM_005257059.3:c.2158C>G | XP_005257116.2:p.Arg720Gly | |
| XM_011524341.1:c.2878C>G | XP_011522643.1:p.Arg960Gly | |
| XM_005257058.4:c.2806C>G | XP_005257115.2:p.Arg936Gly | |
| XM_005257059.4:c.2158C>G | XP_005257116.2:p.Arg720Gly | |
| NM_000088.4:c.3076C>G MANE Select | NP_000079.2:p.Arg1026Gly |