Linked Data
dbSNP Id:
rs747798339
ExAC:
7:158827323 G / A
gnomAD v2:
7-158827323-G-A
gnomAD v3:
7-159034632-G-A
gnomAD v4:
7-159034632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.159034632G>A , CM000669.2:g.159034632G>A | GRCh38 |
| NC_000007.13:g.158827323G>A , CM000669.1:g.158827323G>A | GRCh37 |
| NC_000007.12:g.158520084G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262178.7:c.828C>T MANE Select | ENSP00000262178.2:p.Asp276= | |
| ENST00000262178.6:c.828C>T | ENSP00000262178.2:p.Asp276= | |
| ENST00000377633.7:c.780C>T | ENSP00000366860.3:p.Asp260= | |
| ENST00000402066.5:c.1251C>T | ENSP00000384497.1:p.Asp417= | |
| NM_001304522.1:c.588C>T | NP_001291451.1:p.Asp196= | |
| NM_001308259.1:c.780C>T | NP_001295188.1:p.Asp260= | |
| NM_003382.4:c.828C>T | NP_003373.2:p.Asp276= | |
| NR_130758.1:n.1014C>T | ||
| XM_005249561.2:c.903C>T | XP_005249618.1:p.Asp301= | |
| XM_006716107.1:c.828C>T | XP_006716170.1:p.Asp276= | |
| XM_006716108.2:c.639C>T | XP_006716171.1:p.Asp213= | |
| XM_011516550.1:c.780C>T | XP_011514852.1:p.Asp260= | |
| XM_011516552.1:c.414C>T | XP_011514854.1:p.Asp138= | |
| XR_242047.2:n.1223C>T | ||
| XM_005249561.3:c.903C>T | XP_005249618.1:p.Asp301= | |
| XM_006716107.2:c.828C>T | XP_006716170.1:p.Asp276= | |
| XM_006716108.3:c.639C>T | XP_006716171.1:p.Asp213= | |
| XM_011516550.2:c.780C>T | XP_011514852.1:p.Asp260= | |
| XM_017012580.1:c.414C>T | XP_016868069.1:p.Asp138= | |
| XM_024446914.1:c.903C>T | XP_024302682.1:p.Asp301= | |
| XM_024446915.1:c.903C>T | XP_024302683.1:p.Asp301= | |
| XM_024446916.1:c.828C>T | XP_024302684.1:p.Asp276= | |
| XM_024446917.1:c.639C>T | XP_024302685.1:p.Asp213= | |
| XM_024446918.1:c.414C>T | XP_024302686.1:p.Asp138= | |
| NM_003382.5:c.828C>T MANE Select | NP_003373.2:p.Asp276= | |
| NM_001304522.2:c.588C>T | NP_001291451.1:p.Asp196= | |
| NR_130758.2:n.924C>T |