Linked Data
ClinVar Variation Id:
298507
dbSNP Id:
rs41291468
gnomAD v2:
10-102753568-C-T
gnomAD v3:
10-100993811-C-T
gnomAD v4:
10-100993811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100993811C>T , CM000672.2:g.100993811C>T | GRCh38 |
| NC_000010.10:g.102753568C>T , CM000672.1:g.102753568C>T | GRCh37 |
| NC_000010.9:g.102743558C>T | NCBI36 |
| NG_012624.1:g.11276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.*301C>T MANE Select | ENSP00000309595.2:n.*301C>T | |
| ENST00000370228.2:c.*651C>T | ENSP00000359248.1:n.*651C>T | |
| ENST00000643860.1:c.*880C>T | ENSP00000494389.1:n.*880C>T | |
| ENST00000650396.1:c.1481C>T | ||
| ENST00000311916.6:c.*301C>T | ENSP00000309595.2:n.*301C>T | |
| ENST00000370228.1:c.*651C>T | ENSP00000359248.1:n.*651C>T | |
| NM_001163812.1:c.*651C>T | NP_001157284.1:n.*651C>T | |
| NM_001163813.1:c.*301C>T | NP_001157285.1:n.*301C>T | |
| NM_001163814.1:c.*651C>T | NP_001157286.1:n.*651C>T | |
| NM_021830.4:c.*301C>T | NP_068602.2:n.*301C>T | |
| XM_011539974.1:c.*301C>T | XP_011538276.1:n.*301C>T | |
| XM_011539975.1:c.*301C>T | XP_011538277.1:n.*301C>T | |
| XM_011539975.2:c.*301C>T | XP_011538277.1:n.*301C>T | |
| XM_017016437.1:c.*301C>T | XP_016871926.1:n.*301C>T | |
| XR_001747142.1:n.2650C>T | ||
| XR_001747144.1:n.2632C>T | ||
| XR_002956991.1:n.2468C>T | ||
| XR_945788.2:n.2512C>T | ||
| NM_021830.5:c.*301C>T MANE Select | NP_068602.2:n.*301C>T | |
| NM_001163812.2:c.*651C>T | NP_001157284.1:n.*651C>T | |
| NM_001163813.2:c.*301C>T | NP_001157285.1:n.*301C>T | |
| NM_001163814.2:c.*651C>T | NP_001157286.1:n.*651C>T | |
| NM_001368275.1:c.*301C>T | NP_001355204.1:n.*301C>T | |
| NR_160738.1:n.3144C>T | ||
| NR_160739.1:n.1348C>T | ||
| NR_160740.1:n.3006C>T | ||
| NR_160741.1:n.2962C>T | ||
| NR_160742.1:n.3126C>T |