Revel Score:
ENST00000326524 (MANE Select)
0.253
ENST00000344622
0.253
ENST00000515058
0.253
ENST00000427982
0.253
ENST00000381826
0.253
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00187146 (NFE)
Genomes Max Group AF
0.00154832 (NFE)
Exomes Max Group AF
0.00187721 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37815839C>T , CM000667.2:g.37815839C>T | GRCh38 |
| NC_000005.9:g.37815941C>T , CM000667.1:g.37815941C>T | GRCh37 |
| NC_000005.8:g.37851698C>T | NCBI36 |
| NG_011675.2:g.28842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326524.7:c.448G>A MANE Select | ENSP00000317145.2:p.Asp150Asn | |
| ENST00000326524.6:c.448G>A | ENSP00000317145.2:p.Asp150Asn | |
| ENST00000344622.8:c.370G>A | ENSP00000339703.4:p.Asp124Asn | |
| ENST00000381826.8:c.421G>A | ENSP00000371248.4:p.Asp141Asn | |
| ENST00000427982.5:c.499G>A | ENSP00000409007.1:p.Asp167Asn | |
| ENST00000515058.5:c.370G>A | ENSP00000425928.1:p.Asp124Asn | |
| ENST00000620847.1:c.292G>A | ENSP00000478722.1:p.Asp98Asn | |
| NM_000514.3:c.448G>A | NP_000505.1:p.Asp150Asn | |
| NM_001190468.1:c.499G>A | NP_001177397.1:p.Asp167Asn | |
| NM_001190469.1:c.421G>A | NP_001177398.1:p.Asp141Asn | |
| NM_001278098.1:c.292G>A | NP_001265027.1:p.Asp98Asn | |
| NM_199231.2:c.370G>A | NP_954701.1:p.Asp124Asn | |
| XM_011514028.1:c.448G>A | XP_011512330.1:p.Asp150Asn | |
| XM_011514029.1:c.448G>A | XP_011512331.1:p.Asp150Asn | |
| XM_011514030.1:c.292G>A | XP_011512332.1:p.Asp98Asn | |
| XM_011514030.3:c.292G>A | XP_011512332.1:p.Asp98Asn | |
| XM_017009337.2:c.370G>A | XP_016864826.1:p.Asp124Asn | |
| NM_000514.4:c.448G>A MANE Select | NP_000505.1:p.Asp150Asn |