Revel Score:
ENST00000300527 (MANE Select)
0.899
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132118C>G , CM000683.2:g.46132118C>G | GRCh38 |
| NC_000021.8:g.47552032C>G , CM000683.1:g.47552032C>G | GRCh37 |
| NC_000021.7:g.46376460C>G | NCBI36 |
| NG_008675.1:g.39000C>G , LRG_476:g.39000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2626C>G MANE Select | ENSP00000300527.4:p.Arg876Gly | |
| ENST00000300527.8:c.2626C>G | ENSP00000300527.4:p.Arg876Gly | |
| NM_001849.3:c.2626C>G , LRG_476t1:c.2626C>G | NP_001840.3:p.Arg876Gly | |
| XM_011529451.1:c.2626C>G | XP_011527753.1:p.Arg876Gly | |
| XM_011529452.1:c.2626C>G | XP_011527754.1:p.Arg876Gly | |
| XR_937438.1:n.2703C>G | ||
| XR_937438.2:n.2710C>G | ||
| NM_001849.4:c.2626C>G MANE Select | NP_001840.3:p.Arg876Gly |