gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000275 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002747 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91974630A>G , CM000676.2:g.91974630A>G | GRCh38 |
| NC_000014.8:g.92440974A>G , CM000676.1:g.92440974A>G | GRCh37 |
| NC_000014.7:g.91510727A>G | NCBI36 |
| NG_016970.1:g.70430T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5571T>C MANE Select | ENSP00000267622.4:p.Asn1857= | |
| ENST00000554357.5:c.4717T>C | ||
| NM_004239.3:c.5571T>C | NP_004230.2:p.Asn1857= | |
| XM_005268214.2:c.4245T>C | XP_005268271.1:p.Asn1415= | |
| XM_005268215.2:c.2541T>C | XP_005268272.1:p.Asn847= | |
| XM_006720321.2:c.5568T>C | XP_006720384.1:p.Asn1856= | |
| NM_001321851.1:c.5568T>C | NP_001308780.1:p.Asn1856= | |
| NM_004239.4:c.5571T>C MANE Select | NP_004230.2:p.Asn1857= | |
| XM_017021787.2:c.4866T>C | XP_016877276.1:p.Asn1622= | |
| XM_017021788.2:c.4245T>C | XP_016877277.1:p.Asn1415= |