Linked Data
ClinVar Variation Id:
1299389
ClinVar RCV Id:
RCV001728079
dbSNP Id:
rs536852535
gnomAD v2:
1-227170709-G-T
gnomAD v4:
1-226983008-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226983008G>T , CM000663.2:g.226983008G>T | GRCh38 |
| NC_000001.10:g.227170709G>T , CM000663.1:g.227170709G>T | GRCh37 |
| NC_000001.9:g.225237332G>T | NCBI36 |
| NG_012825.1:g.47772G>T | |
| NG_012825.2:g.90473G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1054G>T MANE Select | ENSP00000355739.3:p.Gly352Cys | |
| ENST00000366779.6:c.*5781G>T | ENSP00000355741.2:n.*5781G>T | |
| ENST00000676884.1:c.*5903G>T | ENSP00000503200.1:n.*5903G>T | |
| ENST00000366777.3:c.1054G>T | ENSP00000355739.3:p.Gly352Cys | |
| ENST00000366778.5:c.898G>T | ENSP00000355740.1:p.Gly300Cys | |
| ENST00000366779.5:c.1054G>T | ENSP00000355741.1:p.Gly352Cys | |
| ENST00000478406.5:n.1033G>T | ||
| ENST00000479852.1:n.2G>T | ||
| ENST00000485462.5:n.444G>T | ||
| NM_020247.4:c.1054G>T | NP_064632.2:p.Gly352Cys | |
| XM_005273201.1:c.1054G>T | XP_005273258.1:p.Gly352Cys | |
| XM_011544238.1:c.1054G>T | XP_011542540.1:p.Gly352Cys | |
| XM_011544239.1:c.1054G>T | XP_011542541.1:p.Gly352Cys | |
| XM_011544240.1:c.1054G>T | XP_011542542.1:p.Gly352Cys | |
| XM_011544241.1:c.1054G>T | XP_011542543.1:p.Gly352Cys | |
| XM_011544239.2:c.1054G>T | XP_011542541.1:p.Gly352Cys | |
| XM_011544241.2:c.1054G>T | XP_011542543.1:p.Gly352Cys | |
| XM_017001852.1:c.1054G>T | XP_016857341.1:p.Gly352Cys | |
| XM_024448517.1:c.1054G>T | XP_024304285.1:p.Gly352Cys | |
| XM_024448518.1:c.1054G>T | XP_024304286.1:p.Gly352Cys | |
| NM_020247.5:c.1054G>T MANE Select | NP_064632.2:p.Gly352Cys |