Linked Data
ClinVar Variation Id:
358940
ClinVar RCV Id:
RCV000794924
dbSNP Id:
rs782672149
ExAC:
7:130038850 C / T
gnomAD v2:
7-130038850-C-T
gnomAD v3:
7-130399009-C-T
gnomAD v4:
7-130399009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130399009C>T , CM000669.2:g.130399009C>T | GRCh38 |
| NC_000007.13:g.130038850C>T , CM000669.1:g.130038850C>T | GRCh37 |
| NC_000007.12:g.129826086C>T | NCBI36 |
| NG_032164.1:g.47202G>A | |
| NG_032164.2:g.47202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.1004G>A MANE Select | ENSP00000223208.4:p.Arg335Lys | |
| ENST00000343969.10:c.797G>A | ENSP00000342738.6:p.Arg266Lys | |
| ENST00000480206.2:c.*1516G>A | ENSP00000502099.1:n.*1516G>A | |
| ENST00000484549.6:c.*1176G>A | ENSP00000419078.2:n.*1176G>A | |
| ENST00000492389.6:c.808G>A | ENSP00000419192.2:n.808G>A | |
| ENST00000541543.6:c.995G>A | ENSP00000445888.2:p.Arg332Lys | |
| ENST00000674539.1:c.*12G>A | ENSP00000502834.1:n.*12G>A | |
| ENST00000674630.1:c.*550G>A | ENSP00000502521.1:n.*550G>A | |
| ENST00000675138.1:c.1049G>A | ENSP00000501597.1:p.Arg350Lys | |
| ENST00000675168.1:c.956G>A | ENSP00000501563.1:p.Arg319Lys | |
| ENST00000675328.1:n.814G>A | ||
| ENST00000675542.1:n.969G>A | ||
| ENST00000675563.1:c.395G>A | ENSP00000502483.1:p.Arg132Lys | |
| ENST00000675596.1:c.788G>A | ENSP00000501735.1:p.Arg263Lys | |
| ENST00000675649.1:c.821G>A | ENSP00000502385.1:p.Arg274Lys | |
| ENST00000675721.1:c.*947G>A | ENSP00000502026.1:n.*947G>A | |
| ENST00000675803.1:c.965G>A | ENSP00000502477.1:p.Arg322Lys | |
| ENST00000675813.1:c.*908G>A | ENSP00000502785.1:n.*908G>A | |
| ENST00000675935.1:c.995G>A | ENSP00000501731.1:p.Arg332Lys | |
| ENST00000675962.1:c.740G>A | ENSP00000502478.1:p.Arg247Lys | |
| ENST00000676115.1:c.*925G>A | ENSP00000502631.1:n.*925G>A | |
| ENST00000676243.1:c.1013G>A | ENSP00000501717.1:p.Arg338Lys | |
| ENST00000676312.1:c.965G>A | ENSP00000502312.1:p.Arg322Lys | |
| ENST00000223208.9:c.1004G>A | ENSP00000223208.4:p.Arg335Lys | |
| ENST00000343969.9:c.788G>A | ENSP00000342738.5:p.Arg263Lys | |
| ENST00000484549.5:c.*550G>A | ENSP00000419078.1:n.*550G>A | |
| ENST00000485736.5:n.687G>A | ||
| ENST00000541543.5:c.740G>A | ENSP00000445888.1:p.Arg247Lys | |
| ENST00000603513.1:n.2201G>A | ||
| NM_001257158.1:c.788G>A | NP_001244087.1:p.Arg263Lys | |
| NM_001257159.1:c.740G>A | NP_001244088.1:p.Arg247Lys | |
| NM_018718.2:c.1004G>A | NP_061188.1:p.Arg335Lys | |
| NR_046443.1:n.1172G>A | ||
| XM_011516708.1:c.1049G>A | XP_011515010.1:p.Arg350Lys | |
| XM_011516709.1:c.899G>A | XP_011515011.1:p.Arg300Lys | |
| XM_011516710.1:c.899G>A | XP_011515012.1:p.Arg300Lys | |
| XM_011516711.1:c.899G>A | XP_011515013.1:p.Arg300Lys | |
| XM_011516712.1:c.833G>A | XP_011515014.1:p.Arg278Lys | |
| XM_011516709.3:c.899G>A | XP_011515011.1:p.Arg300Lys | |
| XM_011516710.3:c.899G>A | XP_011515012.1:p.Arg300Lys | |
| XM_024447004.1:c.965G>A | XP_024302772.1:p.Arg322Lys | |
| NM_018718.3:c.1004G>A MANE Select | NP_061188.1:p.Arg335Lys | |
| NM_001257158.2:c.788G>A | NP_001244087.1:p.Arg263Lys | |
| NR_046443.2:n.978G>A | ||
| NM_001257159.2:c.740G>A | NP_001244088.1:p.Arg247Lys |