ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Exomes Max Group AF
0.00006092 (MID)
Revel Score:
ENST00000344924 (MANE Select)
0.827
ENST00000418040
0.827
ENST00000393132
0.827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.134661775C>T , CM000669.2:g.134661775C>T | GRCh38 |
| NC_000007.13:g.134346527C>T , CM000669.1:g.134346527C>T | GRCh37 |
| NC_000007.12:g.133997067C>T | NCBI36 |
| NG_012921.1:g.19997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344924.8:c.268C>T MANE Select | ENSP00000342032.3:p.Arg90Cys | |
| ENST00000344924.7:c.268C>T | ENSP00000342032.3:p.Arg90Cys | |
| ENST00000393132.2:c.268C>T | ENSP00000376840.2:p.Arg90Cys | |
| ENST00000418040.5:c.268C>T | ENSP00000399838.1:p.Arg90Cys | |
| NM_001293085.1:c.268C>T | NP_001280014.1:p.Arg90Cys | |
| NM_001724.4:c.268C>T | NP_001715.1:p.Arg90Cys | |
| NM_199186.2:c.268C>T | NP_954655.1:p.Arg90Cys | |
| XM_011516527.1:c.268C>T | XP_011514829.1:p.Arg90Cys | |
| XR_928017.1:n.6821-640G>A | ||
| XM_011516527.2:c.268C>T | XP_011514829.1:p.Arg90Cys | |
| NM_001724.5:c.268C>T MANE Select | NP_001715.1:p.Arg90Cys | |
| NM_001293085.2:c.268C>T | NP_001280014.1:p.Arg90Cys | |
| NM_199186.3:c.268C>T | NP_954655.1:p.Arg90Cys |