Linked Data
ClinVar Variation Id:
3060318
ClinVar RCV Id:
RCV003977258
dbSNP Id:
rs1801018
ExAC:
18:60985879 T / C
gnomAD v2:
18-60985879-T-C
gnomAD v3:
18-63318646-T-C
gnomAD v4:
18-63318646-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63318646T>C , CM000680.2:g.63318646T>C | GRCh38 |
| NC_000018.9:g.60985879T>C , CM000680.1:g.60985879T>C | GRCh37 |
| NC_000018.8:g.59136859T>C | NCBI36 |
| NG_009361.1:g.5735A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333681.5:c.21A>G MANE Select | ENSP00000329623.3:p.Thr7= | |
| ENST00000677227.1:c.21A>G | ENSP00000504566.1:p.Thr7= | |
| ENST00000678134.1:c.21A>G | ENSP00000503628.1:p.Thr7= | |
| ENST00000678349.1:c.21A>G | ENSP00000504190.1:p.Thr7= | |
| ENST00000333681.4:c.21A>G | ENSP00000329623.3:p.Thr7= | |
| ENST00000398117.1:c.21A>G | ENSP00000381185.1:p.Thr7= | |
| ENST00000589955.2:c.21A>G | ENSP00000466417.1:p.Thr7= | |
| NM_000633.2:c.21A>G | NP_000624.2:p.Thr7= | |
| NM_000657.2:c.21A>G | NP_000648.2:p.Thr7= | |
| XM_011526135.1:c.21A>G | XP_011524437.1:p.Thr7= | |
| XR_935246.1:n.1133A>G | ||
| XR_935247.1:n.1133A>G | ||
| XR_935248.1:n.912A>G | ||
| XM_011526135.3:c.21A>G | XP_011524437.1:p.Thr7= | |
| XM_017025917.2:c.21A>G | XP_016881406.1:p.Thr7= | |
| XR_935248.3:n.1414A>G | ||
| NM_000633.3:c.21A>G MANE Select | NP_000624.2:p.Thr7= | |
| NM_000657.3:c.21A>G | NP_000648.2:p.Thr7= |