Revel Score:
ENST00000376238 (MANE Select)
0.379
ENST00000537648
0.379
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17913341 (AFR)
Genomes Max Group AF
0.1803503 (AFR)
Exomes Max Group AF
0.17528065 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84302386T>C , CM000671.2:g.84302386T>C | GRCh38 |
| NC_000009.11:g.86917301T>C , CM000671.1:g.86917301T>C | GRCh37 |
| NC_000009.10:g.86107121T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376238.5:c.338A>G MANE Select | ENSP00000365413.4:p.Tyr113Cys | |
| ENST00000376238.4:c.338A>G | ENSP00000365413.4:p.Tyr113Cys | |
| NM_001199633.1:c.338A>G | NP_001186562.1:p.Tyr113Cys | |
| NM_022127.2:c.338A>G | NP_071410.1:p.Tyr113Cys | |
| NR_037638.2:n.660A>G | ||
| XM_011518905.1:c.422A>G | XP_011517207.1:p.Tyr141Cys | |
| XM_011518906.1:c.422A>G | XP_011517208.1:p.Tyr141Cys | |
| XM_011518907.1:c.89A>G | XP_011517209.1:p.Tyr30Cys | |
| XM_011518909.1:c.422A>G | XP_011517211.1:p.Tyr141Cys | |
| XM_011518910.1:c.422A>G | XP_011517212.1:p.Tyr141Cys | |
| XR_929832.1:n.549A>G | ||
| XM_011518905.2:c.422A>G | XP_011517207.1:p.Tyr141Cys | |
| XM_011518906.2:c.422A>G | XP_011517208.1:p.Tyr141Cys | |
| XM_011518907.2:c.89A>G | XP_011517209.1:p.Tyr30Cys | |
| XM_011518909.2:c.422A>G | XP_011517211.1:p.Tyr141Cys | |
| XM_011518910.2:c.422A>G | XP_011517212.1:p.Tyr141Cys | |
| XR_929832.2:n.554A>G | ||
| NM_001199633.2:c.338A>G MANE Select | NP_001186562.1:p.Tyr113Cys | |
| NM_022127.3:c.338A>G | NP_071410.1:p.Tyr113Cys | |
| NR_037638.3:n.639A>G |