Linked Data
ClinVar Variation Id:
2573330
ClinVar RCV Id:
RCV003317019
dbSNP Id:
rs225015
gnomAD v2:
14-80667579-G-A
gnomAD v3:
14-80201236-G-A
gnomAD v4:
14-80201236-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80201236G>A , CM000676.2:g.80201236G>A | GRCh38 |
| NC_000014.8:g.80667579G>A , CM000676.1:g.80667579G>A | GRCh37 |
| NC_000014.7:g.79737332G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438257.9:c.*1453C>T MANE Select | ENSP00000405854.5:n.*1453C>T | |
| ENST00000422005.7:c.*2076C>T | ENSP00000411438.4:n.*2076C>T | |
| ENST00000438257.8:c.*1453C>T | ENSP00000405854.4:n.*1453C>T | |
| ENST00000557010.5:c.*1453C>T | ENSP00000451419.1:n.*1453C>T | |
| NM_000793.5:c.*1453C>T | NP_000784.2:n.*1453C>T | |
| NM_001007023.3:c.*1453C>T | NP_001007024.1:n.*1453C>T | |
| NM_001242502.1:c.*2076C>T | NP_001229431.1:n.*2076C>T | |
| NM_001242503.1:c.*2076C>T | NP_001229432.1:n.*2076C>T | |
| NM_013989.4:c.*1453C>T | NP_054644.1:n.*1453C>T | |
| NM_000793.6:c.*1477C>T | NP_000784.3:n.*1477C>T | |
| NM_001324462.2:c.*1477C>T | NP_001311391.2:n.*1477C>T | |
| NM_001366496.1:c.*1477C>T | NP_001353425.1:n.*1477C>T | |
| NM_013989.5:c.*1453C>T MANE Select | NP_054644.1:n.*1453C>T | |
| NR_158990.1:n.2415C>T | ||
| NR_158991.1:n.2549C>T |