Linked Data
ClinVar Variation Id:
44272
dbSNP Id:
rs1058261
ExAC:
2:220285309 C / T
gnomAD v2:
2-220285309-C-T
gnomAD v3:
2-219420587-C-T
gnomAD v4:
2-219420587-C-T
PubMed:
PMID:10905661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420587C>T , CM000664.2:g.219420587C>T | GRCh38 |
| NC_000002.11:g.220285309C>T , CM000664.1:g.220285309C>T | GRCh37 |
| NC_000002.10:g.219993553C>T | NCBI36 |
| NG_008043.1:g.7211C>T , LRG_380:g.7211C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.302C>T | ||
| ENST00000683013.1:n.216C>T | ||
| ENST00000373960.4:c.828C>T MANE Select | ENSP00000363071.3:p.Asp276= | |
| ENST00000373960.3:c.828C>T | ENSP00000363071.3:p.Asp276= | |
| ENST00000477226.5:n.300C>T | ||
| ENST00000492726.1:n.223C>T | ||
| NM_001927.3:c.828C>T , LRG_380t1:c.828C>T | NP_001918.3:p.Asp276= | |
| NM_001927.4:c.828C>T MANE Select | NP_001918.3:p.Asp276= | |
| NM_001382708.1:c.825C>T | NP_001369637.1:p.Asp275= | |
| NM_001382709.1:c.735+241C>T | NP_001369638.1:n.735+241C>T | |
| NM_001382710.1:c.828C>T | NP_001369639.1:p.Asp276= | |
| NM_001382711.1:c.828C>T | NP_001369640.1:p.Asp276= | |
| NM_001382712.1:c.828C>T | NP_001369641.1:p.Asp276= | |
| NM_001382713.1:c.558C>T | NP_001369642.1:p.Asp186= |