gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8911169 (NFE)
Genomes Max Group AF
0.89110523 (NFE)
Exomes Max Group AF
0.71979429 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.159029367T>C , CM000669.2:g.159029367T>C | GRCh38 |
| NC_000007.13:g.158822058T>C , CM000669.1:g.158822058T>C | GRCh37 |
| NC_000007.12:g.158514819T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262178.7:c.*1249A>G MANE Select | ENSP00000262178.2:n.*1249A>G | |
| ENST00000262178.6:c.*1249A>G | ENSP00000262178.2:n.*1249A>G | |
| NM_001304522.1:c.*1249A>G | NP_001291451.1:n.*1249A>G | |
| NM_001308259.1:c.*1249A>G | NP_001295188.1:n.*1249A>G | |
| NM_003382.4:c.*1249A>G | NP_003373.2:n.*1249A>G | |
| NR_130758.1:n.3086A>G | ||
| XM_005249561.3:c.*1249A>G | XP_005249618.1:n.*1249A>G | |
| XM_017012580.1:c.*1249A>G | XP_016868069.1:n.*1249A>G | |
| XM_024446914.1:c.*1249A>G | XP_024302682.1:n.*1249A>G | |
| XM_024446915.1:c.*1249A>G | XP_024302683.1:n.*1249A>G | |
| XM_024446916.1:c.*1249A>G | XP_024302684.1:n.*1249A>G | |
| XM_024446917.1:c.*1249A>G | XP_024302685.1:n.*1249A>G | |
| XM_024446918.1:c.*1249A>G | XP_024302686.1:n.*1249A>G | |
| NM_003382.5:c.*1249A>G MANE Select | NP_003373.2:n.*1249A>G | |
| NM_001304522.2:c.*1249A>G | NP_001291451.1:n.*1249A>G | |
| NR_130758.2:n.2996A>G |