gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11826954A>C , CM000670.2:g.11826954A>C | GRCh38 |
| NC_000008.10:g.11684463A>C , CM000670.1:g.11684463A>C | GRCh37 |
| NC_000008.9:g.11721872A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528729.2:c.314+739A>C | ||
| ENST00000530337.6:c.702+739A>C | ENSP00000431852.2:n.702+739A>C | |
| ENST00000622850.3:c.510+739A>C | ENSP00000484122.1:n.510+739A>C | |
| ENST00000220584.9:c.702+739A>C MANE Select | ENSP00000220584.4:n.702+739A>C | |
| ENST00000220584.8:c.702+739A>C | ENSP00000220584.4:n.702+739A>C | |
| ENST00000443614.6:c.573+739A>C | ENSP00000390367.2:n.573+739A>C | |
| ENST00000446331.6:n.405+739A>C | ||
| ENST00000525283.5:c.*275+739A>C | ENSP00000433985.1:n.*275+739A>C | |
| ENST00000525607.5:c.*761+739A>C | ENSP00000432551.1:n.*761+739A>C | |
| ENST00000525777.5:c.447+739A>C | ENSP00000436069.1:n.447+739A>C | |
| ENST00000525900.5:c.681+739A>C | ENSP00000434714.1:n.681+739A>C | |
| ENST00000525954.5:n.980+739A>C | ||
| ENST00000528643.5:c.447+739A>C | ENSP00000431649.1:n.447+739A>C | |
| ENST00000528729.1:n.314+739A>C | ||
| ENST00000528812.5:c.510+739A>C | ENSP00000431749.1:n.510+739A>C | |
| ENST00000529464.5:c.*448+739A>C | ENSP00000434770.1:n.*448+739A>C | |
| ENST00000530664.5:c.510+739A>C | ENSP00000432331.1:n.510+739A>C | |
| ENST00000532266.5:c.*113+739A>C | ENSP00000435900.1:n.*113+739A>C | |
| ENST00000538689.4:c.510+739A>C | ENSP00000444248.2:n.510+739A>C | |
| ENST00000615631.4:c.702+739A>C | ENSP00000481481.1:n.702+739A>C | |
| ENST00000618539.4:c.702+739A>C | ENSP00000480828.1:n.702+739A>C | |
| ENST00000622850.2:c.510+739A>C | ENSP00000484122.1:n.510+739A>C | |
| ENST00000623368.3:c.510+739A>C | ENSP00000485229.1:n.510+739A>C | |
| NM_001287742.1:c.702+739A>C | NP_001274671.1:n.702+739A>C | |
| NM_001287743.1:c.702+739A>C | NP_001274672.1:n.702+739A>C | |
| NM_001287744.1:c.510+739A>C | NP_001274673.1:n.510+739A>C | |
| NM_001287745.1:c.510+739A>C | NP_001274674.1:n.510+739A>C | |
| NM_001287747.1:c.510+739A>C | NP_001274676.1:n.510+739A>C | |
| NM_001287748.1:c.510+739A>C | NP_001274677.1:n.510+739A>C | |
| NM_001287749.1:c.510+739A>C | NP_001274678.1:n.510+739A>C | |
| NM_001287750.1:c.879+739A>C | NP_001274679.1:n.879+739A>C | |
| NM_001287751.1:c.447+739A>C | NP_001274680.1:n.447+739A>C | |
| NM_001287756.1:c.201+739A>C | NP_001274685.1:n.201+739A>C | |
| NM_004462.4:c.702+739A>C | NP_004453.3:n.702+739A>C | |
| XM_006716247.1:c.702+739A>C | XP_006716310.1:n.702+739A>C | |
| NM_004462.5:c.702+739A>C MANE Select | NP_004453.3:n.702+739A>C | |
| NM_001287742.2:c.702+739A>C | NP_001274671.1:n.702+739A>C | |
| NM_001287743.2:c.702+739A>C | NP_001274672.1:n.702+739A>C | |
| NM_001287744.2:c.510+739A>C | NP_001274673.1:n.510+739A>C | |
| NM_001287745.2:c.510+739A>C | NP_001274674.1:n.510+739A>C | |
| NM_001287749.2:c.510+739A>C | NP_001274678.1:n.510+739A>C | |
| NM_001287750.2:c.879+739A>C | NP_001274679.1:n.879+739A>C | |
| NM_001287751.2:c.447+739A>C | NP_001274680.1:n.447+739A>C | |
| NM_001287756.2:c.201+739A>C | NP_001274685.1:n.201+739A>C |