Linked Data
ClinVar Variation Id:
97630
dbSNP Id:
rs104895321
ExAC:
12:110029106 C / T
gnomAD v2:
12-110029106-C-T
gnomAD v3:
12-109591301-C-T
gnomAD v4:
12-109591301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591301C>T , CM000674.2:g.109591301C>T | GRCh38 |
| NC_000012.11:g.110029106C>T , CM000674.1:g.110029106C>T | GRCh37 |
| NC_000012.10:g.108513489C>T | NCBI36 |
| NG_007702.1:g.22607C>T , LRG_156:g.22607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-15C>T | ENSP00000439134.1:n.-15C>T | |
| ENST00000546277.6:c.829C>T | ENSP00000438153.2:p.Arg277Cys | |
| ENST00000636529.2:n.468C>T | ||
| ENST00000697195.1:c.*593C>T | ENSP00000513181.1:n.*593C>T | |
| ENST00000697196.1:c.*2C>T | ENSP00000513182.1:n.*2C>T | |
| ENST00000697197.1:n.2858C>T | ||
| ENST00000228510.8:c.829C>T MANE Select | ENSP00000228510.3:p.Arg277Cys | |
| ENST00000636529.1:c.454C>T | ||
| ENST00000636996.1:c.677C>T | ||
| ENST00000228510.7:c.829C>T | ENSP00000228510.3:p.Arg277Cys | |
| ENST00000392727.7:c.673C>T | ENSP00000376487.3:p.Arg225Cys | |
| ENST00000447878.6:c.*276C>T | ENSP00000415555.2:n.*276C>T | |
| ENST00000537237.5:c.*502C>T | ENSP00000445382.1:n.*502C>T | |
| ENST00000539575.4:c.829C>T | ENSP00000443551.2:p.Arg277Cys | |
| ENST00000539696.5:c.-15C>T | ENSP00000439134.1:n.-15C>T | |
| ENST00000540353.1:n.3062C>T | ||
| ENST00000625889.2:c.673C>T | ENSP00000486846.1:p.Arg225Cys | |
| ENST00000629016.2:c.*276C>T | ENSP00000486804.1:n.*276C>T | |
| NM_000431.3:c.829C>T | NP_000422.1:p.Arg277Cys | |
| NM_001114185.2:c.829C>T | NP_001107657.1:p.Arg277Cys | |
| NM_001301182.1:c.673C>T | NP_001288111.1:p.Arg225Cys | |
| XM_011538372.1:c.829C>T | XP_011536674.1:p.Arg277Cys | |
| XM_017019313.2:c.673C>T | XP_016874802.1:p.Arg225Cys | |
| XM_017019314.1:c.829C>T | XP_016874803.1:p.Arg277Cys | |
| XM_024448982.1:c.829C>T | XP_024304750.1:p.Arg277Cys | |
| NM_000431.4:c.829C>T MANE Select | NP_000422.1:p.Arg277Cys | |
| NM_001114185.3:c.829C>T | NP_001107657.1:p.Arg277Cys | |
| NM_001301182.2:c.673C>T | NP_001288111.1:p.Arg225Cys |