Linked Data
ClinVar Variation Id:
347799
ClinVar RCV Id:
RCV000314054
dbSNP Id:
rs1044291
gnomAD v2:
4-155493352-C-T
gnomAD v3:
4-154572200-C-T
gnomAD v4:
4-154572200-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154572200C>T , CM000666.2:g.154572200C>T | GRCh38 |
| NC_000004.11:g.155493352C>T , CM000666.1:g.155493352C>T | GRCh37 |
| NC_000004.10:g.155712802C>T | NCBI36 |
| NG_008833.1:g.14221C>T , LRG_558:g.14221C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302068.9:c.*1550C>T MANE Select | ENSP00000306099.4:n.*1550C>T | |
| NM_001184741.1:c.*1550C>T | NP_001171670.1:n.*1550C>T | |
| NM_005141.4:c.*1550C>T , LRG_558t1:c.*1550C>T | NP_005132.2:n.*1550C>T | |
| NM_001382759.1:c.*1550C>T | NP_001369688.1:n.*1550C>T | |
| NM_001382760.1:c.*1550C>T | NP_001369689.1:n.*1550C>T | |
| NM_001382761.1:c.*1691C>T | NP_001369690.1:n.*1691C>T | |
| NM_001382762.1:c.*1550C>T | NP_001369691.1:n.*1550C>T | |
| NM_001382763.1:c.*1550C>T | NP_001369692.1:n.*1550C>T | |
| NM_001382764.1:c.*1800C>T | NP_001369693.1:n.*1800C>T | |
| NM_001382765.1:c.*1550C>T | NP_001369694.1:n.*1550C>T | |
| NM_005141.5:c.*1550C>T MANE Select | NP_005132.2:n.*1550C>T |