gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09960438 (MID)
Genomes Max Group AF
0.07193761 (SAS)
Exomes Max Group AF
0.09948289 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42731922C>T , CM000670.2:g.42731922C>T | GRCh38 |
| NC_000008.10:g.42587065C>T , CM000670.1:g.42587065C>T | GRCh37 |
| NC_000008.9:g.42706222C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.615C>T MANE Select | ENSP00000289957.2:p.Asn205= | |
| ENST00000289957.2:c.615C>T | ENSP00000289957.2:p.Asn205= | |
| NM_000749.3:c.615C>T | NP_000740.1:p.Asn205= | |
| XM_011544390.1:c.228C>T | XP_011542692.1:p.Asn76= | |
| NM_000749.4:c.615C>T | NP_000740.1:p.Asn205= | |
| NM_001347717.1:c.393C>T | NP_001334646.1:p.Asn131= | |
| XM_011544390.2:c.228C>T | XP_011542692.1:p.Asn76= | |
| NM_000749.5:c.615C>T MANE Select | NP_000740.1:p.Asn205= | |
| NM_001347717.2:c.393C>T | NP_001334646.1:p.Asn131= |