gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4740718 (NFE)
Genomes Max Group AF
0.4740718 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.40043117T>C , CM000683.2:g.40043117T>C | GRCh38 |
| NC_000021.8:g.41415044T>C , CM000683.1:g.41415044T>C | GRCh37 |
| NC_000021.7:g.40336914T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400454.6:c.5384-444A>G MANE Select | ENSP00000383303.1:n.5384-444A>G | |
| ENST00000400454.5:c.5384-444A>G | ENSP00000383303.1:n.5384-444A>G | |
| ENST00000404019.2:c.4640-444A>G | ENSP00000385342.2:n.4640-444A>G | |
| ENST00000617870.4:c.4889-444A>G | ENSP00000478698.1:n.4889-444A>G | |
| NM_001271534.1:c.5384-444A>G | NP_001258463.1:n.5384-444A>G | |
| NM_001389.3:c.5384-444A>G | NP_001380.2:n.5384-444A>G | |
| NR_073202.1:n.5645-444A>G | ||
| XM_011529481.1:c.3020-444A>G | XP_011527783.1:n.3020-444A>G | |
| NM_001271534.2:c.5384-444A>G | NP_001258463.1:n.5384-444A>G | |
| NM_001389.4:c.5384-444A>G | NP_001380.2:n.5384-444A>G | |
| NR_073202.2:n.5671-444A>G | ||
| XM_017028281.1:c.4676-444A>G | XP_016883770.1:n.4676-444A>G | |
| NM_001389.5:c.5384-444A>G MANE Select | NP_001380.2:n.5384-444A>G | |
| NM_001271534.3:c.5384-444A>G | NP_001258463.1:n.5384-444A>G | |
| NR_073202.3:n.5690-444A>G |