gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19170894 (SAS)
Genomes Max Group AF
0.19170894 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206769512T>G , CM000664.2:g.206769512T>G | GRCh38 |
| NC_000002.11:g.207634236T>G , CM000664.1:g.207634236T>G | GRCh37 |
| NC_000002.10:g.207342481T>G | NCBI36 |
| NG_008984.1:g.9125T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.778-579T>G MANE Select | ENSP00000385990.3:n.778-579T>G | |
| ENST00000236980.10:c.778-579T>G | ENSP00000236980.6:n.778-579T>G | |
| ENST00000402774.7:c.778-579T>G | ENSP00000385990.3:n.778-579T>G | |
| ENST00000403094.3:c.778-579T>G | ENSP00000384929.3:n.778-579T>G | |
| ENST00000487777.5:n.836-579T>G | ||
| NM_001136193.1:c.778-579T>G | NP_001129665.1:n.778-579T>G | |
| NM_001136194.1:c.778-579T>G | NP_001129666.1:n.778-579T>G | |
| NM_014929.3:c.778-579T>G | NP_055744.2:n.778-579T>G | |
| NM_001136193.2:c.778-579T>G MANE Select | NP_001129665.1:n.778-579T>G | |
| NM_001136194.2:c.778-579T>G | NP_001129666.1:n.778-579T>G | |
| NM_014929.4:c.778-579T>G | NP_055744.2:n.778-579T>G |