Linked Data
ClinVar Variation Id:
161512
ClinVar RCV Id:
RCV000149046
dbSNP Id:
rs193920918
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57491471G>T , CM000681.2:g.57491471G>T | GRCh38 |
| NC_000019.9:g.58002839G>T , CM000681.1:g.58002839G>T | GRCh37 |
| NC_000019.8:g.62694651G>T | NCBI36 |
| NG_054882.1:g.8761G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221735.12:c.73G>T MANE Select | ENSP00000221735.7:p.Gly25Cys | |
| ENST00000601674.6:c.34G>T | ENSP00000471625.1:p.Gly12Cys | |
| ENST00000221735.11:c.73G>T | ENSP00000221735.7:p.Gly25Cys | |
| ENST00000347466.10:c.76G>T | ENSP00000299860.9:p.Gly26Cys | |
| ENST00000354197.8:c.37G>T | ENSP00000346136.4:p.Gly13Cys | |
| ENST00000415379.6:c.34G>T | ENSP00000392129.2:p.Gly12Cys | |
| ENST00000424930.6:c.76G>T | ENSP00000388864.1:p.Gly26Cys | |
| ENST00000426954.6:c.37G>T | ENSP00000390916.1:p.Gly13Cys | |
| ENST00000442920.6:c.34G>T | ENSP00000414709.2:p.Gly12Cys | |
| ENST00000518999.5:c.76G>T | ENSP00000427723.1:p.Gly26Cys | |
| ENST00000519310.1:c.-93G>T | ENSP00000429880.1:n.-93G>T | |
| ENST00000520540.5:c.37G>T | ENSP00000429471.1:p.Gly13Cys | |
| ENST00000521137.1:c.73G>T | ENSP00000429628.1:p.Gly25Cys | |
| ENST00000521754.5:c.37G>T | ENSP00000428523.1:p.Gly13Cys | |
| ENST00000522346.1:n.3507G>T | ||
| ENST00000523138.5:c.73G>T | ENSP00000429504.1:p.Gly25Cys | |
| ENST00000523312.1:c.34G>T | ENSP00000428515.1:p.Gly12Cys | |
| ENST00000523439.1:n.265G>T | ||
| ENST00000523882.5:c.76G>T | ENSP00000428181.1:p.Gly26Cys | |
| ENST00000599674.1:c.34G>T | ENSP00000472846.1:p.Gly12Cys | |
| ENST00000601674.5:c.34G>T | ENSP00000471625.1:p.Gly12Cys | |
| ENST00000618093.1:c.4G>T | ENSP00000481121.1:p.Gly2Cys | |
| NM_001098491.1:c.76G>T | NP_001091961.1:p.Gly26Cys | |
| NM_001098492.1:c.37G>T | NP_001091962.1:p.Gly13Cys | |
| NM_001098493.1:c.34G>T | NP_001091963.1:p.Gly12Cys | |
| NM_001098494.1:c.76G>T | NP_001091964.1:p.Gly26Cys | |
| NM_001098495.1:c.37G>T | NP_001091965.1:p.Gly13Cys | |
| NM_001098496.1:c.34G>T | NP_001091966.1:p.Gly12Cys | |
| NM_001291743.1:c.73G>T | NP_001278672.1:p.Gly25Cys | |
| NM_001291744.1:c.-93G>T | NP_001278673.1:n.-93G>T | |
| NM_001291745.1:c.37G>T | NP_001278674.1:p.Gly13Cys | |
| NM_024691.3:c.73G>T | NP_078967.3:p.Gly25Cys | |
| XM_011527318.1:c.34G>T | XP_011525620.1:p.Gly12Cys | |
| XM_024451720.1:c.34G>T | XP_024307488.1:p.Gly12Cys | |
| NM_001098491.2:c.76G>T | NP_001091961.1:p.Gly26Cys | |
| NM_001098492.2:c.37G>T | NP_001091962.1:p.Gly13Cys | |
| NM_001098493.2:c.34G>T | NP_001091963.1:p.Gly12Cys | |
| NM_001098494.2:c.76G>T | NP_001091964.1:p.Gly26Cys | |
| NM_001098495.2:c.37G>T | NP_001091965.1:p.Gly13Cys | |
| NM_001098496.2:c.34G>T | NP_001091966.1:p.Gly12Cys | |
| NM_001291743.2:c.73G>T | NP_001278672.1:p.Gly25Cys | |
| NM_001291744.2:c.-93G>T | NP_001278673.1:n.-93G>T | |
| NM_001291745.2:c.37G>T | NP_001278674.1:p.Gly13Cys | |
| NM_024691.4:c.73G>T MANE Select | NP_078967.3:p.Gly25Cys |