Linked Data
ClinVar Variation Id:
45964
dbSNP Id:
rs397517334
ExAC:
10:73537657 T / C
gnomAD v2:
10-73537657-T-C
gnomAD v3:
10-71777900-T-C
gnomAD v4:
10-71777900-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71777900T>C , CM000672.2:g.71777900T>C | GRCh38 |
| NC_000010.10:g.73537657T>C , CM000672.1:g.73537657T>C | GRCh37 |
| NC_000010.9:g.73207663T>C | NCBI36 |
| NG_008835.1:g.385954T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5066T>C MANE Select | ENSP00000224721.9:p.Met1689Thr | |
| ENST00000224721.10:c.5081T>C | ENSP00000224721.8:p.Met1694Thr | |
| ENST00000622827.4:c.5066T>C | ENSP00000483211.1:p.Met1689Thr | |
| NM_022124.5:c.5066T>C | NP_071407.4:p.Met1689Thr | |
| XM_006717940.2:c.5261T>C | XP_006718003.1:p.Met1754Thr | |
| XM_006717942.2:c.5195T>C | XP_006718005.1:p.Met1732Thr | |
| XM_011540039.1:c.5258T>C | XP_011538341.1:p.Met1753Thr | |
| XM_011540040.1:c.5255T>C | XP_011538342.1:p.Met1752Thr | |
| XM_011540041.1:c.5201T>C | XP_011538343.1:p.Met1734Thr | |
| XM_011540042.1:c.5261T>C | XP_011538344.1:p.Met1754Thr | |
| XM_011540043.1:c.5261T>C | XP_011538345.1:p.Met1754Thr | |
| XM_011540044.1:c.5126T>C | XP_011538346.1:p.Met1709Thr | |
| XM_011540045.1:c.5261T>C | XP_011538347.1:p.Met1754Thr | |
| XM_011540046.1:c.4721T>C | XP_011538348.1:p.Met1574Thr | |
| XM_011540047.1:c.4079T>C | XP_011538349.1:p.Met1360Thr | |
| XM_011540048.1:c.5261T>C | XP_011538350.1:p.Met1754Thr | |
| XM_011540049.1:c.5261T>C | XP_011538351.1:p.Met1754Thr | |
| XM_011540050.1:c.5261T>C | XP_011538352.1:p.Met1754Thr | |
| XM_011540051.1:c.5261T>C | XP_011538353.1:p.Met1754Thr | |
| XM_011540052.1:c.1589T>C | XP_011538354.1:p.Met530Thr | |
| XM_011540053.1:c.5261T>C | XP_011538355.1:p.Met1754Thr | |
| XR_945796.1:n.5504T>C | ||
| NM_022124.6:c.5066T>C MANE Select | NP_071407.4:p.Met1689Thr |