Linked Data
ClinVar Variation Id:
1124894
dbSNP Id:
rs149052906
ExAC:
7:130040600 C / T
gnomAD v2:
7-130040600-C-T
gnomAD v3:
7-130400759-C-T
gnomAD v4:
7-130400759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130400759C>T , CM000669.2:g.130400759C>T | GRCh38 |
| NC_000007.13:g.130040600C>T , CM000669.1:g.130040600C>T | GRCh37 |
| NC_000007.12:g.129827836C>T | NCBI36 |
| NG_032164.1:g.45452G>A | |
| NG_032164.2:g.45452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.705G>A MANE Select | ENSP00000223208.4:p.Ala235= | |
| ENST00000343969.10:c.705G>A | ENSP00000342738.6:p.Ala235= | |
| ENST00000471201.6:c.918G>A | ENSP00000417463.2:p.Ala306= | |
| ENST00000472739.6:c.600G>A | ENSP00000417593.2:p.Ala200= | |
| ENST00000475282.6:c.600G>A | ENSP00000418363.2:p.Ala200= | |
| ENST00000477003.6:c.*307G>A | ENSP00000420670.2:n.*307G>A | |
| ENST00000480206.2:c.705G>A | ENSP00000502099.1:p.Ala235= | |
| ENST00000484549.6:c.*877G>A | ENSP00000419078.2:n.*877G>A | |
| ENST00000492389.6:c.725G>A | ENSP00000419192.2:n.725G>A | |
| ENST00000541543.6:c.696G>A | ENSP00000445888.2:p.Ala232= | |
| ENST00000674539.1:c.423-1720G>A | ENSP00000502834.1:n.423-1720G>A | |
| ENST00000674630.1:c.*251G>A | ENSP00000502521.1:n.*251G>A | |
| ENST00000675138.1:c.750G>A | ENSP00000501597.1:p.Ala250= | |
| ENST00000675168.1:c.657G>A | ENSP00000501563.1:p.Ala219= | |
| ENST00000675328.1:n.515G>A | ||
| ENST00000675542.1:n.670G>A | ||
| ENST00000675563.1:c.96G>A | ENSP00000502483.1:p.Ala32= | |
| ENST00000675596.1:c.705G>A | ENSP00000501735.1:p.Ala235= | |
| ENST00000675649.1:c.575-505G>A | ENSP00000502385.1:n.575-505G>A | |
| ENST00000675721.1:c.*648G>A | ENSP00000502026.1:n.*648G>A | |
| ENST00000675803.1:c.666G>A | ENSP00000502477.1:p.Ala222= | |
| ENST00000675813.1:c.*609G>A | ENSP00000502785.1:n.*609G>A | |
| ENST00000675935.1:c.696G>A | ENSP00000501731.1:p.Ala232= | |
| ENST00000675962.1:c.657G>A | ENSP00000502478.1:p.Ala219= | |
| ENST00000676115.1:c.*626G>A | ENSP00000502631.1:n.*626G>A | |
| ENST00000676243.1:c.705G>A | ENSP00000501717.1:p.Ala235= | |
| ENST00000676312.1:c.666G>A | ENSP00000502312.1:p.Ala222= | |
| ENST00000223208.9:c.705G>A | ENSP00000223208.4:p.Ala235= | |
| ENST00000343969.9:c.705G>A | ENSP00000342738.5:p.Ala235= | |
| ENST00000480206.1:n.170G>A | ||
| ENST00000484549.5:c.*251G>A | ENSP00000419078.1:n.*251G>A | |
| ENST00000485736.5:n.388G>A | ||
| ENST00000541543.5:c.657G>A | ENSP00000445888.1:p.Ala219= | |
| ENST00000603513.1:n.451G>A | ||
| NM_001257158.1:c.705G>A | NP_001244087.1:p.Ala235= | |
| NM_001257159.1:c.657G>A | NP_001244088.1:p.Ala219= | |
| NM_018718.2:c.705G>A | NP_061188.1:p.Ala235= | |
| NR_046443.1:n.873G>A | ||
| XM_011516708.1:c.750G>A | XP_011515010.1:p.Ala250= | |
| XM_011516709.1:c.600G>A | XP_011515011.1:p.Ala200= | |
| XM_011516710.1:c.600G>A | XP_011515012.1:p.Ala200= | |
| XM_011516711.1:c.600G>A | XP_011515013.1:p.Ala200= | |
| XM_011516712.1:c.750G>A | XP_011515014.1:p.Ala250= | |
| XM_011516709.3:c.600G>A | XP_011515011.1:p.Ala200= | |
| XM_011516710.3:c.600G>A | XP_011515012.1:p.Ala200= | |
| XM_024447004.1:c.666G>A | XP_024302772.1:p.Ala222= | |
| NM_018718.3:c.705G>A MANE Select | NP_061188.1:p.Ala235= | |
| NM_001257158.2:c.705G>A | NP_001244087.1:p.Ala235= | |
| NR_046443.2:n.679G>A | ||
| NM_001257159.2:c.657G>A | NP_001244088.1:p.Ala219= |