Linked Data
ClinVar Variation Id:
5445
ClinVar RCV Id:
RCV000005778
dbSNP Id:
rs121908447
gnomAD v4:
8-31147397-C-T
PubMed:
PMID:8602509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31147397C>T , CM000670.2:g.31147397C>T | GRCh38 |
| NC_000008.10:g.31004913C>T , CM000670.1:g.31004913C>T | GRCh37 |
| NC_000008.9:g.31124455C>T | NCBI36 |
| NG_008870.1:g.119136C>T , LRG_524:g.119136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.3493C>T MANE Select | ENSP00000298139.5:p.Gln1165Ter | |
| ENST00000650667.1:c.*3107C>T | ENSP00000498593.1:n.*3107C>T | |
| ENST00000298139.5:c.3493C>T | ENSP00000298139.5:p.Gln1165Ter | |
| ENST00000521620.5:n.2126C>T | ||
| NM_000553.4:c.3493C>T , LRG_524t1:c.3493C>T | NP_000544.2:p.Gln1165Ter | |
| XM_011544639.1:c.3412C>T | XP_011542941.1:p.Gln1138Ter | |
| XM_011544640.1:c.1894C>T | XP_011542942.1:p.Gln632Ter | |
| XR_949470.1:n.3766C>T | ||
| XR_949471.1:n.3766C>T | ||
| XR_949472.1:n.3766C>T | ||
| XR_949643.1:n.614+1111G>A | ||
| NM_000553.5:c.3493C>T | NP_000544.2:p.Gln1165Ter | |
| XM_011544639.3:c.3412C>T | XP_011542941.1:p.Gln1138Ter | |
| XM_024447265.1:c.3283C>T | XP_024303033.1:p.Gln1095Ter | |
| XR_949470.3:n.3794C>T | ||
| XR_949471.3:n.3794C>T | ||
| XR_949472.3:n.3794C>T | ||
| NM_000553.6:c.3493C>T MANE Select | NP_000544.2:p.Gln1165Ter |