Linked Data
dbSNP Id:
rs7770619
gnomAD v2:
6-35350042-C-T
gnomAD v3:
6-35382265-C-T
gnomAD v4:
6-35382265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35382265C>T , CM000668.2:g.35382265C>T | GRCh38 |
| NC_000006.11:g.35350042C>T , CM000668.1:g.35350042C>T | GRCh37 |
| NC_000006.10:g.35458020C>T | NCBI36 |
| NG_012345.1:g.44708C>T | |
| NG_012345.2:g.44708C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360694.8:c.-101-28722C>T MANE Select | ENSP00000353916.3:n.-101-28722C>T | |
| ENST00000311565.4:c.-197-15233C>T | ENSP00000310928.4:n.-197-15233C>T | |
| ENST00000337400.6:c.-197-15233C>T | ENSP00000337063.2:n.-197-15233C>T | |
| ENST00000360694.7:c.-101-28722C>T | ENSP00000353916.3:n.-101-28722C>T | |
| ENST00000418635.6:c.-101-28722C>T | ENSP00000413314.2:n.-101-28722C>T | |
| ENST00000448077.6:c.13+35115C>T | ENSP00000414372.2:n.13+35115C>T | |
| NM_001171818.1:c.-197-15233C>T | NP_001165289.1:n.-197-15233C>T | |
| NM_001171819.1:c.13+35115C>T | NP_001165290.1:n.13+35115C>T | |
| NM_001171820.1:c.-101-28722C>T | NP_001165291.1:n.-101-28722C>T | |
| NM_006238.4:c.-101-28722C>T | NP_006229.1:n.-101-28722C>T | |
| NM_177435.2:c.-101-28722C>T | NP_803184.1:n.-101-28722C>T | |
| XM_005249193.1:c.-101-28722C>T | XP_005249250.1:n.-101-28722C>T | |
| XM_006715120.1:c.-101-28722C>T | XP_006715183.1:n.-101-28722C>T | |
| XM_006715121.1:c.-101-28722C>T | XP_006715184.1:n.-101-28722C>T | |
| XM_006715123.1:c.-101-28722C>T | XP_006715186.1:n.-101-28722C>T | |
| XM_011514707.1:c.-101-28722C>T | XP_011513009.1:n.-101-28722C>T | |
| XM_011514708.1:c.-101-28722C>T | XP_011513010.1:n.-101-28722C>T | |
| XM_011514709.1:c.-197-15233C>T | XP_011513011.1:n.-197-15233C>T | |
| XM_011514710.1:c.-101-28722C>T | XP_011513012.1:n.-101-28722C>T | |
| XM_011514711.1:c.-101-28722C>T | XP_011513013.1:n.-101-28722C>T | |
| XM_011514712.1:c.-101-28722C>T | XP_011513014.1:n.-101-28722C>T | |
| XM_011514713.1:c.-101-28722C>T | XP_011513015.1:n.-101-28722C>T | |
| XM_017010972.1:c.-250-27949C>T | XP_016866461.1:n.-250-27949C>T | |
| XM_017010973.1:c.-326-14712C>T | XP_016866462.1:n.-326-14712C>T | |
| XM_017010974.1:c.-101-28722C>T | XP_016866463.1:n.-101-28722C>T | |
| NM_006238.5:c.-101-28722C>T MANE Select | NP_006229.1:n.-101-28722C>T | |
| NM_001171818.2:c.-197-15233C>T | NP_001165289.1:n.-197-15233C>T | |
| NM_177435.3:c.-101-28722C>T | NP_803184.1:n.-101-28722C>T | |
| NM_001171819.2:c.13+35115C>T | NP_001165290.1:n.13+35115C>T | |
| NM_001171820.2:c.-101-28722C>T | NP_001165291.1:n.-101-28722C>T |