gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015698 (EAS)
Genomes Max Group AF
0.00015698 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51733713G>T , CM000672.2:g.51733713G>T | GRCh38 |
| NC_000010.10:g.53493473G>T , CM000672.1:g.53493473G>T | GRCh37 |
| NC_000010.9:g.53163479G>T | NCBI36 |
| NG_029982.1:g.747563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373976.9:c.593-70872G>T | ENSP00000363087.4:n.593-70872G>T | |
| ENST00000373980.11:c.593-70872G>T MANE Select | ENSP00000363092.5:n.593-70872G>T | |
| ENST00000401604.8:c.548-70872G>T | ENSP00000384200.4:n.548-70872G>T | |
| ENST00000643582.1:c.593-70872G>T | ENSP00000495279.1:n.593-70872G>T | |
| ENST00000643704.1:c.593-70872G>T | ENSP00000496551.1:n.593-70872G>T | |
| ENST00000645324.1:c.593-70872G>T | ENSP00000494124.1:n.593-70872G>T | |
| ENST00000373976.8:c.167-70872G>T | ENSP00000363087.3:n.167-70872G>T | |
| ENST00000373980.8:c.593-70872G>T | ENSP00000363092.4:n.593-70872G>T | |
| ENST00000373985.5:c.548-70872G>T | ENSP00000363097.2:n.548-70872G>T | |
| NM_001098512.2:c.548-70872G>T | NP_001091982.1:n.548-70872G>T | |
| NM_006258.3:c.593-70872G>T | NP_006249.1:n.593-70872G>T | |
| XM_011539952.1:c.593-70872G>T | XP_011538254.1:n.593-70872G>T | |
| XR_945960.1:n.174+102C>A | ||
| NM_001098512.3:c.548-70872G>T | NP_001091982.1:n.548-70872G>T | |
| NM_006258.4:c.593-70872G>T MANE Select | NP_006249.1:n.593-70872G>T | |
| XM_011539952.2:c.593-70872G>T | XP_011538254.1:n.593-70872G>T | |
| XM_017016412.1:c.308-70872G>T | XP_016871901.1:n.308-70872G>T | |
| XM_017016413.1:c.290-70872G>T | XP_016871902.1:n.290-70872G>T | |
| NM_001374782.1:c.593-70872G>T | NP_001361711.1:n.593-70872G>T |