Linked Data
ClinVar Variation Id:
732071
dbSNP Id:
rs11555016
ExAC:
10:73594150 G / A
gnomAD v2:
10-73594150-G-A
gnomAD v3:
10-71834393-G-A
gnomAD v4:
10-71834393-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71834393G>A , CM000672.2:g.71834393G>A | GRCh38 |
| NC_000010.10:g.73594150G>A , CM000672.1:g.73594150G>A | GRCh37 |
| NC_000010.9:g.73264156G>A | NCBI36 |
| NG_009301.1:g.21933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.153C>T MANE Select | ENSP00000378394.3:p.Thr51= | |
| ENST00000394934.4:c.153C>T | ENSP00000378392.2:p.Thr51= | |
| ENST00000394936.7:c.153C>T | ENSP00000378394.3:p.Thr51= | |
| ENST00000610929.3:c.153C>T | ENSP00000480857.1:p.Thr51= | |
| NM_001042465.1:c.153C>T | NP_001035930.1:p.Thr51= | |
| NM_001042466.1:c.153C>T | NP_001035931.1:p.Thr51= | |
| NM_002778.2:c.153C>T | NP_002769.1:p.Thr51= | |
| NM_001042465.2:c.153C>T | NP_001035930.1:p.Thr51= | |
| NM_001042466.2:c.153C>T | NP_001035931.1:p.Thr51= | |
| NM_002778.3:c.153C>T | NP_002769.1:p.Thr51= | |
| NM_002778.4:c.153C>T MANE Select | NP_002769.1:p.Thr51= | |
| NM_001042465.3:c.153C>T | NP_001035930.1:p.Thr51= | |
| NM_001042466.3:c.153C>T | NP_001035931.1:p.Thr51= |