gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41097499 (EAS)
Genomes Max Group AF
0.41097499 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102597148A>G , CM000666.2:g.102597148A>G | GRCh38 |
| NC_000004.11:g.103518305A>G , CM000666.1:g.103518305A>G | GRCh37 |
| NC_000004.10:g.103737343A>G | NCBI36 |
| NG_050628.1:g.100820A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.1520-372A>G | ENSP00000426147.2:n.1520-372A>G | |
| ENST00000509165.2:c.1496-372A>G | ENSP00000423877.2:n.1496-372A>G | |
| ENST00000697794.1:c.*1137-372A>G | ENSP00000513443.1:n.*1137-372A>G | |
| ENST00000697799.1:n.993-372A>G | ||
| ENST00000698233.1:n.853A>G | ||
| ENST00000226574.9:c.1496-372A>G MANE Select | ENSP00000226574.4:n.1496-372A>G | |
| ENST00000652569.1:c.1472-372A>G | ||
| ENST00000652619.1:c.*22+276A>G | ENSP00000499031.1:n.*22+276A>G | |
| ENST00000226574.8:c.1496-372A>G | ENSP00000226574.4:n.1496-372A>G | |
| ENST00000394820.8:c.1493-372A>G | ENSP00000378297.4:n.1493-372A>G | |
| ENST00000505458.5:c.1493-372A>G | ENSP00000424790.1:n.1493-372A>G | |
| ENST00000600343.5:c.953-372A>G | ENSP00000469340.1:n.953-372A>G | |
| NM_001165412.1:c.1493-372A>G | NP_001158884.1:n.1493-372A>G | |
| NM_003998.3:c.1496-372A>G | NP_003989.2:n.1496-372A>G | |
| XM_011532006.1:c.1517-372A>G | XP_011530308.1:n.1517-372A>G | |
| XM_011532007.1:c.1493-372A>G | XP_011530309.1:n.1493-372A>G | |
| XM_011532008.1:c.1337-372A>G | XP_011530310.1:n.1337-372A>G | |
| XM_011532009.1:c.1100-372A>G | XP_011530311.1:n.1100-372A>G | |
| NM_001319226.1:c.1493-372A>G | NP_001306155.1:n.1493-372A>G | |
| XM_011532006.2:c.1517-372A>G | XP_011530308.1:n.1517-372A>G | |
| XM_024454067.1:c.1520-372A>G | XP_024309835.1:n.1520-372A>G | |
| XM_024454068.1:c.1496-372A>G | XP_024309836.1:n.1496-372A>G | |
| XM_024454069.1:c.1361-372A>G | XP_024309837.1:n.1361-372A>G | |
| NM_003998.4:c.1496-372A>G MANE Select | NP_003989.2:n.1496-372A>G | |
| NM_001165412.2:c.1493-372A>G | NP_001158884.1:n.1493-372A>G | |
| NM_001319226.2:c.1493-372A>G | NP_001306155.1:n.1493-372A>G | |
| NM_001382625.1:c.1496-372A>G | NP_001369554.1:n.1496-372A>G | |
| NM_001382626.1:c.1496-372A>G | NP_001369555.1:n.1496-372A>G | |
| NM_001382627.1:c.1493-372A>G | NP_001369556.1:n.1493-372A>G | |
| NM_001382628.1:c.1454-372A>G | NP_001369557.1:n.1454-372A>G |