Linked Data
ClinVar Variation Id:
45972
ClinVar RCV Id:
RCV000039207
dbSNP Id:
rs397517337
gnomAD v4:
10-71779351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71779351C>T , CM000672.2:g.71779351C>T | GRCh38 |
| NC_000010.10:g.73539108C>T , CM000672.1:g.73539108C>T | GRCh37 |
| NC_000010.9:g.73209114C>T | NCBI36 |
| NG_008835.1:g.387405C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.5272C>T MANE Select | ENSP00000224721.9:p.Gln1758Ter | |
| ENST00000224721.10:c.5287C>T | ENSP00000224721.8:p.Gln1763Ter | |
| ENST00000622827.4:c.5272C>T | ENSP00000483211.1:p.Gln1758Ter | |
| NM_022124.5:c.5272C>T | NP_071407.4:p.Gln1758Ter | |
| XM_006717940.2:c.5467C>T | XP_006718003.1:p.Gln1823Ter | |
| XM_006717942.2:c.5401C>T | XP_006718005.1:p.Gln1801Ter | |
| XM_011540039.1:c.5464C>T | XP_011538341.1:p.Gln1822Ter | |
| XM_011540040.1:c.5461C>T | XP_011538342.1:p.Gln1821Ter | |
| XM_011540041.1:c.5407C>T | XP_011538343.1:p.Gln1803Ter | |
| XM_011540042.1:c.5467C>T | XP_011538344.1:p.Gln1823Ter | |
| XM_011540043.1:c.5467C>T | XP_011538345.1:p.Gln1823Ter | |
| XM_011540044.1:c.5332C>T | XP_011538346.1:p.Gln1778Ter | |
| XM_011540045.1:c.5467C>T | XP_011538347.1:p.Gln1823Ter | |
| XM_011540046.1:c.4927C>T | XP_011538348.1:p.Gln1643Ter | |
| XM_011540047.1:c.4285C>T | XP_011538349.1:p.Gln1429Ter | |
| XM_011540048.1:c.5467C>T | XP_011538350.1:p.Gln1823Ter | |
| XM_011540049.1:c.5467C>T | XP_011538351.1:p.Gln1823Ter | |
| XM_011540050.1:c.5467C>T | XP_011538352.1:p.Gln1823Ter | |
| XM_011540051.1:c.5467C>T | XP_011538353.1:p.Gln1823Ter | |
| XM_011540052.1:c.1795C>T | XP_011538354.1:p.Gln599Ter | |
| XM_011540053.1:c.5467C>T | XP_011538355.1:p.Gln1823Ter | |
| XR_945796.1:n.5710C>T | ||
| NM_022124.6:c.5272C>T MANE Select | NP_071407.4:p.Gln1758Ter |