Revel Score:
ENST00000225964 (MANE Select)
0.196
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Exomes Max Group AF
0.00002455 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199800G>C , CM000679.2:g.50199800G>C | GRCh38 |
| NC_000017.10:g.48277161G>C , CM000679.1:g.48277161G>C | GRCh37 |
| NC_000017.9:g.45632160G>C | NCBI36 |
| NG_007400.1:g.6840C>G , LRG_1:g.6840C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.251C>G MANE Select | ENSP00000225964.6:p.Ala84Gly | |
| ENST00000225964.9:c.251C>G | ENSP00000225964.5:p.Ala84Gly | |
| ENST00000474644.1:n.370C>G | ||
| ENST00000507689.1:c.305C>G | ENSP00000460459.1:p.Ala102Gly | |
| NM_000088.3:c.251C>G , LRG_1t1:c.251C>G | NP_000079.2:p.Ala84Gly | |
| XM_005257058.3:c.251C>G | XP_005257115.2:p.Ala84Gly | |
| XM_005257059.3:c.251C>G | XP_005257116.2:p.Ala84Gly | |
| XM_011524341.1:c.251C>G | XP_011522643.1:p.Ala84Gly | |
| XM_005257058.4:c.251C>G | XP_005257115.2:p.Ala84Gly | |
| XM_005257059.4:c.251C>G | XP_005257116.2:p.Ala84Gly | |
| NM_000088.4:c.251C>G MANE Select | NP_000079.2:p.Ala84Gly |