gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37368832 (SAS)
Genomes Max Group AF
0.36310868 (SAS)
Exomes Max Group AF
0.37353694 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.186678647C>T , CM000664.2:g.186678647C>T | GRCh38 |
| NC_000002.11:g.187543374C>T , CM000664.1:g.187543374C>T | GRCh37 |
| NC_000002.10:g.187251619C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696906.1:c.3124+1378C>T | ENSP00000512967.1:n.3124+1378C>T | |
| ENST00000696907.1:c.*1355C>T | ENSP00000512968.1:n.*1355C>T | |
| ENST00000696908.1:c.*3912C>T | ENSP00000512969.1:n.*3912C>T | |
| ENST00000696909.1:c.*1355C>T | ENSP00000512970.1:n.*1355C>T | |
| ENST00000696910.1:c.*1355C>T | ENSP00000512971.1:n.*1355C>T | |
| ENST00000696911.1:c.*1355C>T | ENSP00000512972.1:n.*1355C>T | |
| ENST00000696912.1:c.*1355C>T | ENSP00000512973.1:n.*1355C>T | |
| ENST00000696913.1:c.*1355C>T | ENSP00000512974.1:n.*1355C>T | |
| ENST00000696914.1:c.*4054C>T | ENSP00000512975.1:n.*4054C>T | |
| ENST00000696917.1:n.5033C>T | ||
| ENST00000696918.1:n.5709C>T | ||
| ENST00000696919.1:n.5685C>T | ||
| ENST00000696937.1:c.*2172C>T | ENSP00000512982.1:n.*2172C>T | |
| ENST00000261023.8:c.*1355C>T MANE Select | ENSP00000261023.3:n.*1355C>T | |
| ENST00000261023.7:c.*1355C>T | ENSP00000261023.3:n.*1355C>T | |
| ENST00000374907.7:c.*1355C>T | ENSP00000364042.3:n.*1355C>T | |
| NM_001144999.2:c.*1355C>T | NP_001138471.1:n.*1355C>T | |
| NM_001145000.2:c.*1355C>T | NP_001138472.1:n.*1355C>T | |
| NM_002210.4:c.*1355C>T | NP_002201.1:n.*1355C>T | |
| XM_006712513.2:c.*1355C>T | XP_006712576.1:n.*1355C>T | |
| NM_002210.5:c.*1355C>T MANE Select | NP_002201.2:n.*1355C>T | |
| NM_001145000.3:c.*1355C>T | NP_001138472.2:n.*1355C>T | |
| NM_001144999.3:c.*1355C>T | NP_001138471.2:n.*1355C>T |