gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99051157 (EAS)
Genomes Max Group AF
0.97552277 (EAS)
Exomes Max Group AF
0.99000981 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99124423T>C , CM000666.2:g.99124423T>C | GRCh38 |
| NC_000004.11:g.100045574T>C , CM000666.1:g.100045574T>C | GRCh37 |
| NC_000004.10:g.100264597T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265512.12:c.*19A>G MANE Select | ENSP00000265512.7:n.*19A>G | |
| ENST00000265512.11:c.*19A>G | ENSP00000265512.7:n.*19A>G | |
| ENST00000505590.5:c.*19A>G | ENSP00000425416.1:n.*19A>G | |
| ENST00000508393.5:c.*19A>G | ENSP00000424630.1:n.*19A>G | |
| ENST00000509471.5:c.516A>G | ENSP00000424583.1:n.516A>G | |
| ENST00000629236.2:c.1159A>G | ENSP00000486450.1:p.Arg387Gly | |
| NM_000670.3:c.*19A>G | NP_000661.2:n.*19A>G | |
| NM_000670.4:c.*19A>G | NP_000661.2:n.*19A>G | |
| NM_001306171.1:c.*19A>G | NP_001293100.1:n.*19A>G | |
| NM_001306172.1:c.*19A>G | NP_001293101.1:n.*19A>G | |
| NR_037884.1:n.429-9132T>C | ||
| XR_938685.1:n.1501A>G | ||
| XR_938686.1:n.1492A>G | ||
| XR_938687.1:n.1365A>G | ||
| NM_000670.5:c.*19A>G MANE Select | NP_000661.2:n.*19A>G | |
| NM_001306171.2:c.*19A>G | NP_001293100.1:n.*19A>G | |
| NM_001306172.2:c.*19A>G | NP_001293101.1:n.*19A>G |