Linked Data
ClinVar Variation Id:
381600
dbSNP Id:
rs1057521094
gnomAD v4:
7-44151076-C-T
PubMed:
PMID:19564454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44151076C>T , CM000669.2:g.44151076C>T | GRCh38 |
| NC_000007.13:g.44190675C>T , CM000669.1:g.44190675C>T | GRCh37 |
| NC_000007.12:g.44157200C>T | NCBI36 |
| NG_008847.1:g.43348G>A | |
| NG_008847.2:g.52095G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*362-1G>A | ENSP00000379142.4:n.*362-1G>A | |
| ENST00000616242.5:c.364-1G>A | ENSP00000482149.2:n.364-1G>A | |
| ENST00000682635.1:n.850-1G>A | ||
| ENST00000345378.7:c.367-1G>A | ENSP00000223366.2:n.367-1G>A | |
| ENST00000403799.8:c.364-1G>A MANE Select | ENSP00000384247.3:n.364-1G>A | |
| ENST00000671824.1:c.364-1G>A | ENSP00000500264.1:n.364-1G>A | |
| ENST00000673284.1:c.364-1G>A | ENSP00000499852.1:n.364-1G>A | |
| ENST00000345378.6:c.367-1G>A | ENSP00000223366.2:n.367-1G>A | |
| ENST00000395796.7:c.361-1G>A | ENSP00000379142.3:n.361-1G>A | |
| ENST00000403799.7:c.364-1G>A | ENSP00000384247.3:n.364-1G>A | |
| ENST00000437084.1:c.364-52G>A | ENSP00000402840.1:n.364-52G>A | |
| ENST00000616242.4:c.361-1G>A | ENSP00000482149.1:n.361-1G>A | |
| NM_000162.3:c.364-1G>A | NP_000153.1:n.364-1G>A | |
| NM_033507.1:c.367-1G>A | NP_277042.1:n.367-1G>A | |
| NM_033508.1:c.361-1G>A | NP_277043.1:n.361-1G>A | |
| NM_000162.4:c.364-1G>A | NP_000153.1:n.364-1G>A | |
| NM_001354800.1:c.364-1G>A | NP_001341729.1:n.364-1G>A | |
| NM_033507.2:c.367-1G>A | NP_277042.1:n.367-1G>A | |
| NM_033508.2:c.361-1G>A | NP_277043.1:n.361-1G>A | |
| NM_000162.5:c.364-1G>A MANE Select | NP_000153.1:n.364-1G>A | |
| NM_033507.3:c.367-1G>A | NP_277042.1:n.367-1G>A | |
| NM_033508.3:c.361-1G>A | NP_277043.1:n.361-1G>A |