gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53275996 (AFR)
Genomes Max Group AF
0.53275996 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136182554G>T , CM000667.2:g.136182554G>T | GRCh38 |
| NC_000005.9:g.135518242G>T , CM000667.1:g.135518242G>T | GRCh37 |
| NC_000005.8:g.135546141G>T | NCBI36 |
| NG_032037.1:g.54708G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545279.6:c.*5074G>T MANE Select | ENSP00000441954.2:n.*5074G>T | |
| ENST00000513418.1:c.165-4607G>T | ||
| ENST00000545279.5:c.*5074G>T | ENSP00000441954.2:n.*5074G>T | |
| ENST00000545620.5:c.*5074G>T | ENSP00000446474.2:n.*5074G>T | |
| NM_001001419.2:c.*5074G>T | NP_001001419.1:n.*5074G>T | |
| NM_001001420.2:c.*5074G>T | NP_001001420.1:n.*5074G>T | |
| NM_005903.6:c.*5074G>T | NP_005894.3:n.*5074G>T | |
| NM_005903.7:c.*5074G>T MANE Select | NP_005894.3:n.*5074G>T | |
| NM_001001419.3:c.*5074G>T | NP_001001419.1:n.*5074G>T | |
| NM_001001420.3:c.*5074G>T | NP_001001420.1:n.*5074G>T |