gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001573 (AMR)
Exomes Max Group AF
0.00002254 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102760714A>G , CM000666.2:g.102760714A>G | GRCh38 |
| NC_000004.11:g.103681871A>G , CM000666.1:g.103681871A>G | GRCh37 |
| NC_000004.10:g.103900916A>G | NCBI36 |
| NG_012804.1:g.5281T>C | |
| NG_012804.2:g.5281T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642252.1:c.177+4T>C | ENSP00000495483.1:n.177+4T>C | |
| ENST00000644159.1:c.177+4T>C | ENSP00000494462.1:n.177+4T>C | |
| ENST00000644545.1:c.177+4T>C | ENSP00000493992.1:n.177+4T>C | |
| ENST00000644965.1:c.177+4T>C | ENSP00000495818.1:n.177+4T>C | |
| ENST00000645348.1:c.177+4T>C | ENSP00000495363.1:n.177+4T>C | |
| ENST00000646311.1:c.177+4T>C | ENSP00000493465.1:n.177+4T>C | |
| ENST00000646727.1:c.177+4T>C | ENSP00000493519.1:n.177+4T>C | |
| ENST00000647097.2:c.177+4T>C MANE Select | ENSP00000495247.1:n.177+4T>C | |
| ENST00000226578.8:c.177+4T>C | ENSP00000226578.4:n.177+4T>C | |
| ENST00000505239.1:c.177+4T>C | ENSP00000427322.1:n.177+4T>C | |
| ENST00000507358.1:n.277+4T>C | ||
| ENST00000511813.1:c.177+4T>C | ENSP00000422001.1:n.177+4T>C | |
| ENST00000514430.5:n.224+4T>C | ||
| NM_005908.3:c.177+4T>C | NP_005899.3:n.177+4T>C | |
| XM_017008203.1:c.-360+4T>C | XP_016863692.1:n.-360+4T>C | |
| XM_017008204.2:c.-348+4T>C | XP_016863693.1:n.-348+4T>C | |
| NM_005908.4:c.177+4T>C MANE Select | NP_005899.3:n.177+4T>C |