gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00052896 (NFE)
Genomes Max Group AF
0.00032955 (NFE)
Exomes Max Group AF
0.00053434 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78446735C>T , CM000666.2:g.78446735C>T | GRCh38 |
| NC_000004.11:g.79367889C>T , CM000666.1:g.79367889C>T | GRCh37 |
| NC_000004.10:g.79586913C>T | NCBI36 |
| NG_015812.1:g.394166C>T | |
| NG_015812.2:g.394166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.5865C>T | ENSP00000508201.1:p.Asn1955= | |
| ENST00000684159.1:c.5865C>T | ENSP00000506875.1:p.Asn1955= | |
| ENST00000512123.4:c.5865C>T MANE Select | ENSP00000422834.2:p.Asn1955= | |
| ENST00000512123.3:c.5865C>T | ENSP00000422834.2:p.Asn1955= | |
| NM_025074.6:c.5865C>T | NP_079350.5:p.Asn1955= | |
| XM_006714314.1:c.5859C>T | XP_006714377.1:p.Asn1953= | |
| XM_006714316.1:c.5865C>T | XP_006714379.1:p.Asn1955= | |
| XM_011532270.1:c.3564C>T | XP_011530572.1:p.Asn1188= | |
| XM_011532271.1:c.753C>T | XP_011530573.1:p.Asn251= | |
| XM_006714316.3:c.5865C>T | XP_006714379.1:p.Asn1955= | |
| NM_025074.7:c.5865C>T MANE Select | NP_079350.5:p.Asn1955= |