Linked Data
ClinVar Variation Id:
158697
dbSNP Id:
rs62625033
ExAC:
10:70760271 T / C
gnomAD v2:
10-70760271-T-C
gnomAD v3:
10-69000515-T-C
gnomAD v4:
10-69000515-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69000515T>C , CM000672.2:g.69000515T>C | GRCh38 |
| NC_000010.10:g.70760271T>C , CM000672.1:g.70760271T>C | GRCh37 |
| NC_000010.9:g.70430277T>C | NCBI36 |
| NG_017061.1:g.16795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.518T>C MANE Select | ENSP00000354848.4:p.Met173Thr | |
| ENST00000625461.2:n.548T>C | ||
| ENST00000626493.2:c.518T>C | ENSP00000486692.1:p.Met173Thr | |
| ENST00000635779.2:c.518T>C | ENSP00000489663.1:p.Met173Thr | |
| ENST00000635971.2:c.518T>C | ENSP00000489878.2:p.Met173Thr | |
| ENST00000636200.2:c.518T>C | ENSP00000490113.2:p.Met173Thr | |
| ENST00000637101.2:c.*91T>C | ENSP00000490704.1:n.*91T>C | |
| ENST00000637104.2:c.*87T>C | ENSP00000490019.2:n.*87T>C | |
| ENST00000637323.2:c.*159T>C | ENSP00000489659.2:n.*159T>C | |
| ENST00000637420.2:c.518T>C | ENSP00000490404.2:p.Met173Thr | |
| ENST00000637738.2:c.518T>C | ENSP00000490742.2:p.Met173Thr | |
| ENST00000638119.2:c.593T>C | ENSP00000490026.1:p.Met198Thr | |
| ENST00000674660.1:c.518T>C | ENSP00000502562.1:p.Met173Thr | |
| ENST00000674688.1:n.548T>C | ||
| ENST00000674897.1:c.2T>C | ENSP00000502225.1:p.Met1Thr | |
| ENST00000674936.1:c.518T>C | ENSP00000502484.1:p.Met173Thr | |
| ENST00000675576.1:c.427-4531T>C | ENSP00000502750.1:n.427-4531T>C | |
| ENST00000676080.1:c.*31T>C | ENSP00000502706.1:n.*31T>C | |
| ENST00000361983.6:c.518T>C | ENSP00000354848.4:p.Met173Thr | |
| ENST00000625461.1:n.234T>C | ||
| ENST00000626493.1:c.518T>C | ENSP00000486692.1:p.Met173Thr | |
| NM_015634.3:c.518T>C | NP_056449.1:p.Met173Thr | |
| NM_015634.4:c.518T>C MANE Select | NP_056449.1:p.Met173Thr |