gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42867711 (EAS)
Genomes Max Group AF
0.39993742 (EAS)
Exomes Max Group AF
0.43093933 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113721259C>T , CM000672.2:g.113721259C>T | GRCh38 |
| NC_000010.10:g.115481018C>T , CM000672.1:g.115481018C>T | GRCh37 |
| NC_000010.9:g.115471008C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369318.8:c.247+91C>T MANE Select | ENSP00000358324.4:n.247+91C>T | |
| ENST00000672138.1:c.244+91C>T | ENSP00000500735.1:n.244+91C>T | |
| ENST00000345633.8:c.247+91C>T | ENSP00000298701.7:n.247+91C>T | |
| ENST00000369315.5:c.247+91C>T | ENSP00000358321.1:n.247+91C>T | |
| ENST00000369318.7:c.247+91C>T | ENSP00000358324.3:n.247+91C>T | |
| ENST00000369321.6:c.502+91C>T | ENSP00000358327.3:n.502+91C>T | |
| ENST00000369331.8:c.247+91C>T | ENSP00000358337.3:n.247+91C>T | |
| ENST00000429617.5:c.247+91C>T | ENSP00000400094.1:n.247+91C>T | |
| ENST00000452490.3:c.172+91C>T | ENSP00000398107.2:n.172+91C>T | |
| ENST00000468790.1:n.571+91C>T | ||
| ENST00000487232.1:n.171+91C>T | ||
| ENST00000614447.4:c.247+91C>T | ENSP00000478285.1:n.247+91C>T | |
| ENST00000621345.4:c.247+91C>T | ENSP00000480584.1:n.247+91C>T | |
| ENST00000621607.4:c.346+91C>T | ENSP00000478999.1:n.346+91C>T | |
| NM_001227.4:c.247+91C>T | NP_001218.1:n.247+91C>T | |
| NM_001267056.1:c.247+91C>T | NP_001253985.1:n.247+91C>T | |
| NM_001267057.1:c.502+91C>T | NP_001253986.1:n.502+91C>T | |
| NM_001267058.1:c.172+91C>T | NP_001253987.1:n.172+91C>T | |
| NM_033338.5:c.346+91C>T | NP_203124.1:n.346+91C>T | |
| NM_033339.4:c.247+91C>T | NP_203125.1:n.247+91C>T | |
| NM_033340.3:c.247+91C>T | NP_203126.1:n.247+91C>T | |
| XM_006718017.2:c.289+91C>T | XP_006718080.1:n.289+91C>T | |
| XM_006718018.1:c.271+91C>T | XP_006718081.1:n.271+91C>T | |
| XM_011540259.1:c.346+91C>T | XP_011538561.1:n.346+91C>T | |
| XM_011540260.1:c.148+91C>T | XP_011538562.1:n.148+91C>T | |
| NM_001320911.1:c.271+91C>T | NP_001307840.1:n.271+91C>T | |
| XM_006718017.3:c.289+91C>T | XP_006718080.1:n.289+91C>T | |
| XM_017016763.1:c.304+91C>T | XP_016872252.1:n.304+91C>T | |
| XM_017016764.1:c.271+91C>T | XP_016872253.1:n.271+91C>T | |
| NM_001227.5:c.247+91C>T MANE Select | NP_001218.1:n.247+91C>T | |
| NM_001320911.2:c.271+91C>T | NP_001307840.1:n.271+91C>T | |
| NM_033338.6:c.346+91C>T | NP_203124.1:n.346+91C>T | |
| NM_033339.5:c.247+91C>T | NP_203125.1:n.247+91C>T | |
| NM_033340.4:c.247+91C>T | NP_203126.1:n.247+91C>T | |
| NM_001267056.2:c.247+91C>T | NP_001253985.1:n.247+91C>T | |
| NM_001267058.2:c.172+91C>T | NP_001253987.1:n.172+91C>T |