Revel Score:
ENST00000409484
0.083
ENST00000321348 (MANE Select)
0.083
gnomAD v4:
Joint Max Group AF
0.00001774 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171554763G>C , CM000664.2:g.171554763G>C | GRCh38 |
| NC_000002.11:g.172411273G>C , CM000664.1:g.172411273G>C | GRCh37 |
| NC_000002.10:g.172119519G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321348.9:c.797G>C MANE Select | ENSP00000319141.4:p.Ser266Thr | |
| ENST00000321348.8:c.797G>C | ENSP00000319141.4:p.Ser266Thr | |
| ENST00000375252.3:c.*114G>C | ENSP00000364401.3:n.*114G>C | |
| ENST00000409484.5:c.623G>C | ENSP00000386739.1:p.Ser208Thr | |
| NM_001127383.1:c.*114G>C | NP_001120855.1:n.*114G>C | |
| NM_001256909.1:c.623G>C | NP_001243838.1:p.Ser208Thr | |
| NM_024843.3:c.797G>C | NP_079119.3:p.Ser266Thr | |
| NM_024843.4:c.797G>C MANE Select | NP_079119.3:p.Ser266Thr | |
| NM_001127383.2:c.*114G>C | NP_001120855.1:n.*114G>C | |
| NM_001256909.2:c.623G>C | NP_001243838.1:p.Ser208Thr |