Linked Data
dbSNP Id:
rs6922548
gnomAD v2:
6-35353523-A-G
gnomAD v3:
6-35385746-A-G
gnomAD v4:
6-35385746-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35385746A>G , CM000668.2:g.35385746A>G | GRCh38 |
| NC_000006.11:g.35353523A>G , CM000668.1:g.35353523A>G | GRCh37 |
| NC_000006.10:g.35461501A>G | NCBI36 |
| NG_012345.1:g.48189A>G | |
| NG_012345.2:g.48189A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360694.8:c.-101-25241A>G MANE Select | ENSP00000353916.3:n.-101-25241A>G | |
| ENST00000311565.4:c.-197-11752A>G | ENSP00000310928.4:n.-197-11752A>G | |
| ENST00000337400.6:c.-197-11752A>G | ENSP00000337063.2:n.-197-11752A>G | |
| ENST00000360694.7:c.-101-25241A>G | ENSP00000353916.3:n.-101-25241A>G | |
| ENST00000418635.6:c.-101-25241A>G | ENSP00000413314.2:n.-101-25241A>G | |
| ENST00000448077.6:c.14-34381A>G | ENSP00000414372.2:n.14-34381A>G | |
| NM_001171818.1:c.-197-11752A>G | NP_001165289.1:n.-197-11752A>G | |
| NM_001171819.1:c.14-34381A>G | NP_001165290.1:n.14-34381A>G | |
| NM_001171820.1:c.-101-25241A>G | NP_001165291.1:n.-101-25241A>G | |
| NM_006238.4:c.-101-25241A>G | NP_006229.1:n.-101-25241A>G | |
| NM_177435.2:c.-101-25241A>G | NP_803184.1:n.-101-25241A>G | |
| XM_005249193.1:c.-101-25241A>G | XP_005249250.1:n.-101-25241A>G | |
| XM_006715120.1:c.-101-25241A>G | XP_006715183.1:n.-101-25241A>G | |
| XM_006715121.1:c.-101-25241A>G | XP_006715184.1:n.-101-25241A>G | |
| XM_006715123.1:c.-101-25241A>G | XP_006715186.1:n.-101-25241A>G | |
| XM_011514707.1:c.-101-25241A>G | XP_011513009.1:n.-101-25241A>G | |
| XM_011514708.1:c.-101-25241A>G | XP_011513010.1:n.-101-25241A>G | |
| XM_011514709.1:c.-197-11752A>G | XP_011513011.1:n.-197-11752A>G | |
| XM_011514710.1:c.-101-25241A>G | XP_011513012.1:n.-101-25241A>G | |
| XM_011514711.1:c.-101-25241A>G | XP_011513013.1:n.-101-25241A>G | |
| XM_011514712.1:c.-101-25241A>G | XP_011513014.1:n.-101-25241A>G | |
| XM_011514713.1:c.-101-25241A>G | XP_011513015.1:n.-101-25241A>G | |
| XM_017010972.1:c.-250-24468A>G | XP_016866461.1:n.-250-24468A>G | |
| XM_017010973.1:c.-326-11231A>G | XP_016866462.1:n.-326-11231A>G | |
| XM_017010974.1:c.-101-25241A>G | XP_016866463.1:n.-101-25241A>G | |
| NM_006238.5:c.-101-25241A>G MANE Select | NP_006229.1:n.-101-25241A>G | |
| NM_001171818.2:c.-197-11752A>G | NP_001165289.1:n.-197-11752A>G | |
| NM_177435.3:c.-101-25241A>G | NP_803184.1:n.-101-25241A>G | |
| NM_001171819.2:c.14-34381A>G | NP_001165290.1:n.14-34381A>G | |
| NM_001171820.2:c.-101-25241A>G | NP_001165291.1:n.-101-25241A>G |