Linked Data
ClinVar Variation Id:
45943
dbSNP Id:
rs397517329
ExAC:
10:73498354 C / T
gnomAD v2:
10-73498354-C-T
gnomAD v3:
10-71738597-C-T
gnomAD v4:
10-71738597-C-T
PubMed:
PMID:16679490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71738597C>T , CM000672.2:g.71738597C>T | GRCh38 |
| NC_000010.10:g.73498354C>T , CM000672.1:g.73498354C>T | GRCh37 |
| NC_000010.9:g.73168360C>T | NCBI36 |
| NG_008835.1:g.346651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4309C>T MANE Select | ENSP00000224721.9:p.Arg1437Ter | |
| ENST00000224721.10:c.4324C>T | ENSP00000224721.8:p.Arg1442Ter | |
| ENST00000398792.3:n.998C>T | ||
| ENST00000622827.4:c.4309C>T | ENSP00000483211.1:p.Arg1437Ter | |
| NM_022124.5:c.4309C>T | NP_071407.4:p.Arg1437Ter | |
| XM_006717940.2:c.4504C>T | XP_006718003.1:p.Arg1502Ter | |
| XM_006717942.2:c.4438C>T | XP_006718005.1:p.Arg1480Ter | |
| XM_011540039.1:c.4501C>T | XP_011538341.1:p.Arg1501Ter | |
| XM_011540040.1:c.4498C>T | XP_011538342.1:p.Arg1500Ter | |
| XM_011540041.1:c.4444C>T | XP_011538343.1:p.Arg1482Ter | |
| XM_011540042.1:c.4504C>T | XP_011538344.1:p.Arg1502Ter | |
| XM_011540043.1:c.4504C>T | XP_011538345.1:p.Arg1502Ter | |
| XM_011540044.1:c.4369C>T | XP_011538346.1:p.Arg1457Ter | |
| XM_011540045.1:c.4504C>T | XP_011538347.1:p.Arg1502Ter | |
| XM_011540046.1:c.3964C>T | XP_011538348.1:p.Arg1322Ter | |
| XM_011540047.1:c.3322C>T | XP_011538349.1:p.Arg1108Ter | |
| XM_011540048.1:c.4504C>T | XP_011538350.1:p.Arg1502Ter | |
| XM_011540049.1:c.4504C>T | XP_011538351.1:p.Arg1502Ter | |
| XM_011540050.1:c.4504C>T | XP_011538352.1:p.Arg1502Ter | |
| XM_011540051.1:c.4504C>T | XP_011538353.1:p.Arg1502Ter | |
| XM_011540052.1:c.832C>T | XP_011538354.1:p.Arg278Ter | |
| XM_011540053.1:c.4504C>T | XP_011538355.1:p.Arg1502Ter | |
| XR_945796.1:n.4747C>T | ||
| NM_022124.6:c.4309C>T MANE Select | NP_071407.4:p.Arg1437Ter |