gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39109159 (EAS)
Genomes Max Group AF
0.39109159 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95907227T>C , CM000667.2:g.95907227T>C | GRCh38 |
| NC_000005.9:g.95242931T>C , CM000667.1:g.95242931T>C | GRCh37 |
| NC_000005.8:g.95268687T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237853.9:c.482-445A>G MANE Select | ENSP00000237853.4:n.482-445A>G | |
| ENST00000237853.8:c.482-445A>G | ENSP00000237853.4:n.482-445A>G | |
| ENST00000506628.1:n.262-445A>G | ||
| ENST00000513343.1:c.196-6147A>G | ENSP00000423915.1:n.196-6147A>G | |
| NM_012081.5:c.482-445A>G | NP_036213.2:n.482-445A>G | |
| XM_006714575.1:c.317-445A>G | XP_006714638.1:n.317-445A>G | |
| XM_011543280.1:c.86-445A>G | XP_011541582.1:n.86-445A>G | |
| XM_006714575.3:c.317-445A>G | XP_006714638.1:n.317-445A>G | |
| XM_017009239.1:c.482-445A>G | XP_016864728.1:n.482-445A>G | |
| XM_017009240.2:c.86-445A>G | XP_016864729.1:n.86-445A>G | |
| XM_017009241.2:c.86-445A>G | XP_016864730.1:n.86-445A>G | |
| XM_017009242.1:c.86-445A>G | XP_016864731.1:n.86-445A>G | |
| XM_017009243.2:c.-168-351A>G | XP_016864732.1:n.-168-351A>G | |
| NM_012081.6:c.482-445A>G MANE Select | NP_036213.2:n.482-445A>G |