gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00192711 (SAS)
Genomes Max Group AF
0.00192711 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1124836A>C , CM000681.2:g.1124836A>C | GRCh38 |
| NC_000019.9:g.1124835A>C , CM000681.1:g.1124835A>C | GRCh37 |
| NC_000019.8:g.1075835A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361757.8:c.442-814T>G MANE Select | ENSP00000354733.2:n.442-814T>G | |
| ENST00000361757.7:c.442-814T>G | ENSP00000354733.2:n.442-814T>G | |
| ENST00000438103.6:c.271-814T>G | ENSP00000400762.1:n.271-814T>G | |
| ENST00000587024.5:c.442-814T>G | ENSP00000468520.1:n.442-814T>G | |
| ENST00000592222.5:n.295-814T>G | ||
| NM_001100122.1:c.271-814T>G | NP_001093592.1:n.271-814T>G | |
| NM_014963.2:c.442-814T>G | NP_055778.2:n.442-814T>G | |
| XM_005259519.3:c.442-814T>G | XP_005259576.1:n.442-814T>G | |
| XM_005259520.2:c.442-814T>G | XP_005259577.1:n.442-814T>G | |
| XM_011527803.1:c.220-814T>G | XP_011526105.1:n.220-814T>G | |
| XM_011527804.1:c.442-814T>G | XP_011526106.1:n.442-814T>G | |
| XM_011527804.3:c.442-814T>G | XP_011526106.1:n.442-814T>G | |
| NM_014963.3:c.442-814T>G MANE Select | NP_055778.2:n.442-814T>G | |
| NM_001100122.2:c.271-814T>G | NP_001093592.1:n.271-814T>G |