Revel Score:
ENST00000375715
0.084
ENST00000375708 (MANE Select)
0.084
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00205918 (EAS)
Genomes Max Group AF
0.00304121 (EAS)
Exomes Max Group AF
0.00179678 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91731107C>T , CM000671.2:g.91731107C>T | GRCh38 |
| NC_000009.11:g.94493389C>T , CM000671.1:g.94493389C>T | GRCh37 |
| NC_000009.10:g.93533210C>T | NCBI36 |
| NG_008089.1:g.224056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.986G>A MANE Select | ENSP00000364860.3:p.Ser329Asn | |
| ENST00000375708.3:c.986G>A | ENSP00000364860.3:p.Ser329Asn | |
| ENST00000375715.5:c.566G>A | ENSP00000364867.1:p.Ser189Asn | |
| ENST00000550066.5:n.1454G>A | ||
| NM_004560.3:c.986G>A | NP_004551.2:p.Ser329Asn | |
| XM_005252008.3:c.566G>A | XP_005252065.1:p.Ser189Asn | |
| XM_006717121.2:c.566G>A | XP_006717184.1:p.Ser189Asn | |
| XM_011518721.1:c.566G>A | XP_011517023.1:p.Ser189Asn | |
| NM_001318204.1:c.986G>A | NP_001305133.1:p.Ser329Asn | |
| XM_005252008.4:c.566G>A | XP_005252065.1:p.Ser189Asn | |
| XM_006717121.3:c.566G>A | XP_006717184.1:p.Ser189Asn | |
| XM_017014762.1:c.977G>A | XP_016870251.1:p.Ser326Asn | |
| XM_017014763.1:c.566G>A | XP_016870252.1:p.Ser189Asn | |
| XR_001746315.1:n.1229G>A | ||
| NM_004560.4:c.986G>A MANE Select | NP_004551.2:p.Ser329Asn | |
| NM_001318204.2:c.986G>A | NP_001305133.1:p.Ser329Asn |