ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001717 (SAS)
Genomes Max Group AF
0.0000192 (AFR)
Exomes Max Group AF
0.00017248 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50544080G>A , CM000669.2:g.50544080G>A | GRCh38 |
| NC_000007.13:g.50611778G>A , CM000669.1:g.50611778G>A | GRCh37 |
| NC_000007.12:g.50579272G>A | NCBI36 |
| NG_008742.1:g.26377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.6C>T MANE Select | ENSP00000403644.2:p.Asn2= | |
| ENST00000357936.9:c.6C>T | ENSP00000350616.5:p.Asn2= | |
| ENST00000380984.4:c.6C>T | ENSP00000370371.4:p.Asn2= | |
| ENST00000420203.1:c.6C>T | ENSP00000408626.1:p.Asn2= | |
| ENST00000426377.5:c.6C>T | ENSP00000395069.1:p.Asn2= | |
| ENST00000431062.5:c.6C>T | ENSP00000399184.1:p.Asn2= | |
| ENST00000444124.6:c.6C>T | ENSP00000403644.2:p.Asn2= | |
| ENST00000444733.5:c.6C>T | ENSP00000393724.1:p.Asn2= | |
| ENST00000615193.4:c.6C>T | ENSP00000484104.1:p.Asn2= | |
| ENST00000617822.4:c.6C>T | ENSP00000478385.1:p.Asn2= | |
| ENST00000622873.4:c.6C>T | ENSP00000479110.1:p.Asn2= | |
| NM_000790.3:c.6C>T | NP_000781.1:p.Asn2= | |
| NM_001082971.1:c.6C>T | NP_001076440.1:p.Asn2= | |
| NM_001242886.1:c.6C>T | NP_001229815.1:p.Asn2= | |
| NM_001242887.1:c.6C>T | NP_001229816.1:p.Asn2= | |
| NM_001242888.1:c.6C>T | NP_001229817.1:p.Asn2= | |
| NM_001242889.1:c.6C>T | NP_001229818.1:p.Asn2= | |
| NM_001242890.1:c.6C>T | NP_001229819.1:p.Asn2= | |
| XM_005271745.3:c.6C>T | XP_005271802.1:p.Asn2= | |
| XM_005271745.4:c.6C>T | XP_005271802.1:p.Asn2= | |
| NM_001082971.2:c.6C>T MANE Select | NP_001076440.2:p.Asn2= | |
| NM_000790.4:c.6C>T | NP_000781.2:p.Asn2= | |
| NM_001242888.2:c.6C>T | NP_001229817.2:p.Asn2= | |
| NM_001242890.2:c.6C>T | NP_001229819.2:p.Asn2= | |
| NM_001242886.2:c.6C>T | NP_001229815.2:p.Asn2= | |
| NM_001242887.2:c.6C>T | NP_001229816.2:p.Asn2= | |
| NM_001242889.2:c.6C>T | NP_001229818.2:p.Asn2= |