Linked Data
ClinVar Variation Id:
320117
ClinVar RCV Id:
RCV000316691
dbSNP Id:
rs74451221
gnomAD v2:
16-66542085-G-A
gnomAD v3:
16-66508182-G-A
gnomAD v4:
16-66508182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66508182G>A , CM000678.2:g.66508182G>A | GRCh38 |
| NC_000016.9:g.66542085G>A , CM000678.1:g.66542085G>A | GRCh37 |
| NC_000016.8:g.65099586G>A | NCBI36 |
| NG_016862.1:g.47231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544898.6:c.*3786C>T MANE Select | ENSP00000440898.2:n.*3786C>T | |
| ENST00000676821.1:n.122+468C>T | ||
| ENST00000677166.1:n.109+3776C>T | ||
| ENST00000677319.1:c.699C>T | ENSP00000503900.1:n.699C>T | |
| ENST00000677405.1:n.122+468C>T | ||
| ENST00000677535.1:c.2046C>T | ENSP00000502856.1:n.2046C>T | |
| ENST00000677668.1:n.122+468C>T | ||
| ENST00000677753.1:n.81+5549C>T | ||
| ENST00000678219.1:c.1934C>T | ENSP00000504142.1:n.1934C>T | |
| ENST00000678257.1:n.122+468C>T | ||
| ENST00000678282.1:n.82-5175C>T | ||
| ENST00000299697.11:c.*3786C>T | ENSP00000299697.8:n.*3786C>T | |
| ENST00000561527.5:n.258+5549C>T | ||
| ENST00000561728.1:c.148+5549C>T | ||
| ENST00000561905.2:c.643C>T | ||
| ENST00000620035.4:c.*3786C>T | ENSP00000483833.1:n.*3786C>T | |
| NM_001172643.1:c.*3786C>T | NP_001166114.1:n.*3786C>T | |
| NM_001172644.1:c.*3786C>T | NP_001166115.1:n.*3786C>T | |
| NM_001172645.1:c.*3786C>T | NP_001166116.1:n.*3786C>T | |
| NM_001271934.1:c.*3786C>T | NP_001258863.1:n.*3786C>T | |
| NM_001271935.1:c.*3881C>T | NP_001258864.1:n.*3881C>T | |
| NM_001272050.1:c.*3786C>T | NP_001258979.1:n.*3786C>T | |
| NM_004614.4:c.*3786C>T | NP_004605.4:n.*3786C>T | |
| NR_073520.1:n.5863C>T | ||
| NM_001172644.2:c.*3786C>T | NP_001166115.1:n.*3786C>T | |
| NM_001271934.2:c.*3786C>T | NP_001258863.1:n.*3786C>T | |
| NM_001272050.2:c.*3786C>T | NP_001258979.1:n.*3786C>T | |
| NM_004614.5:c.*3786C>T MANE Select | NP_004605.4:n.*3786C>T | |
| NR_073520.2:n.5573C>T | ||
| NM_001172645.2:c.*3786C>T | NP_001166116.1:n.*3786C>T |