gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63294028 (SAS)
Genomes Max Group AF
0.63294028 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26568249C>T , CM000674.2:g.26568249C>T | GRCh38 |
| NC_000012.11:g.26721182C>T , CM000674.1:g.26721182C>T | GRCh37 |
| NC_000012.10:g.26612449C>T | NCBI36 |
| NG_042142.1:g.269950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381340.8:c.4631-6297G>A MANE Select | ENSP00000370744.3:n.4631-6297G>A | |
| ENST00000381340.7:c.4631-6297G>A | ENSP00000370744.3:n.4631-6297G>A | |
| NM_002223.2:c.4631-6297G>A | NP_002214.2:n.4631-6297G>A | |
| NM_002223.3:c.4631-6297G>A | NP_002214.2:n.4631-6297G>A | |
| XM_011520645.1:c.4079-6297G>A | XP_011518947.1:n.4079-6297G>A | |
| XM_011520646.1:c.3698-6297G>A | XP_011518948.1:n.3698-6297G>A | |
| XR_931288.1:n.5047-6297G>A | ||
| XM_017019266.1:c.4691-6297G>A | XP_016874755.1:n.4691-6297G>A | |
| XM_017019267.1:c.4625-6297G>A | XP_016874756.1:n.4625-6297G>A | |
| XM_017019269.2:c.4691-6297G>A | XP_016874758.1:n.4691-6297G>A | |
| XR_001748686.2:n.5107-6297G>A | ||
| XR_001748687.1:n.5107-6297G>A | ||
| NM_002223.4:c.4631-6297G>A MANE Select | NP_002214.2:n.4631-6297G>A |