Revel Score:
ENST00000225964 (MANE Select)
0.710
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036699 (NFE)
Genomes Max Group AF
0.00017082 (NFE)
Exomes Max Group AF
0.00037425 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50189173G>A , CM000679.2:g.50189173G>A | GRCh38 |
| NC_000017.10:g.48266534G>A , CM000679.1:g.48266534G>A | GRCh37 |
| NC_000017.9:g.45621533G>A | NCBI36 |
| NG_007400.1:g.17467C>T , LRG_1:g.17467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2932C>T MANE Select | ENSP00000225964.6:p.Pro978Ser | |
| ENST00000225964.9:c.2932C>T | ENSP00000225964.5:p.Pro978Ser | |
| NM_000088.3:c.2932C>T , LRG_1t1:c.2932C>T | NP_000079.2:p.Pro978Ser | |
| XM_005257058.3:c.2668-163C>T | XP_005257115.2:n.2668-163C>T | |
| XM_005257059.3:c.2014C>T | XP_005257116.2:p.Pro672Ser | |
| XM_011524341.1:c.2734C>T | XP_011522643.1:p.Pro912Ser | |
| XM_005257058.4:c.2668-163C>T | XP_005257115.2:n.2668-163C>T | |
| XM_005257059.4:c.2014C>T | XP_005257116.2:p.Pro672Ser | |
| NM_000088.4:c.2932C>T MANE Select | NP_000079.2:p.Pro978Ser |