Revel Score:
ENST00000395925 (MANE Select)
0.471
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043218 (NFE)
Genomes Max Group AF
0.00035399 (NFE)
Exomes Max Group AF
0.00042988 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41967908G>A , CM000669.2:g.41967908G>A | GRCh38 |
| NC_000007.13:g.42007506G>A , CM000669.1:g.42007506G>A | GRCh37 |
| NC_000007.12:g.41974031G>A | NCBI36 |
| NG_008434.1:g.274113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2119C>T MANE Select | ENSP00000379258.3:p.Pro707Ser | |
| ENST00000677288.1:c.1945C>T | ENSP00000503986.1:p.Pro649Ser | |
| ENST00000677605.1:c.2119C>T | ENSP00000503743.1:p.Pro707Ser | |
| ENST00000678429.1:c.2119C>T | ENSP00000502957.1:p.Pro707Ser | |
| ENST00000395925.7:c.2119C>T | ENSP00000379258.3:p.Pro707Ser | |
| ENST00000479210.1:n.2096C>T | ||
| NM_000168.5:c.2119C>T | NP_000159.3:p.Pro707Ser | |
| XM_005249703.1:c.2119C>T | XP_005249760.1:p.Pro707Ser | |
| XM_005249704.2:c.2119C>T | XP_005249761.1:p.Pro707Ser | |
| XM_011515272.1:c.2119C>T | XP_011513574.1:p.Pro707Ser | |
| XM_011515273.1:c.2119C>T | XP_011513575.1:p.Pro707Ser | |
| XM_011515274.1:c.1942C>T | XP_011513576.1:p.Pro648Ser | |
| XM_011515274.2:c.1942C>T | XP_011513576.1:p.Pro648Ser | |
| XM_017011997.1:c.2116C>T | XP_016867486.1:p.Pro706Ser | |
| NM_000168.6:c.2119C>T MANE Select | NP_000159.3:p.Pro707Ser |