Revel Score:
ENST00000343257 (MANE Select)
0.483
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00088924 (AFR)
Genomes Max Group AF
0.0009155 (AFR)
Exomes Max Group AF
0.00069499 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351793C>T , CM000669.2:g.143351793C>T | GRCh38 |
| NC_000007.13:g.143048886C>T , CM000669.1:g.143048886C>T | GRCh37 |
| NC_000007.12:g.142759008C>T | NCBI36 |
| NG_009815.1:g.40668C>T | |
| NG_009815.2:g.40668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2795C>T | ENSP00000498052.2:p.Pro932Leu | |
| ENST00000343257.7:c.2795C>T MANE Select | ENSP00000339867.2:p.Pro932Leu | |
| ENST00000343257.6:c.2795C>T | ENSP00000339867.2:p.Pro932Leu | |
| NM_000083.2:c.2795C>T | NP_000074.2:p.Pro932Leu | |
| NR_046453.1:n.2735C>T | ||
| XM_011515781.1:c.2819C>T | XP_011514083.1:p.Pro940Leu | |
| XM_011515782.1:c.1541C>T | XP_011514084.1:p.Pro514Leu | |
| XM_011515782.2:c.1541C>T | XP_011514084.1:p.Pro514Leu | |
| XM_017011739.1:c.2369C>T | XP_016867228.1:p.Pro790Leu | |
| XM_017011740.1:c.2345C>T | XP_016867229.1:p.Pro782Leu | |
| NM_000083.3:c.2795C>T MANE Select | NP_000074.3:p.Pro932Leu | |
| NR_046453.2:n.2750C>T |