Linked Data
ClinVar Variation Id:
364975
ClinVar RCV Id:
RCV000355061
dbSNP Id:
rs886063443
gnomAD v3:
9-126700093-G-T
gnomAD v4:
9-126700093-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126700093G>T , CM000671.2:g.126700093G>T | GRCh38 |
| NC_000009.11:g.129462372G>T , CM000671.1:g.129462372G>T | GRCh37 |
| NC_000009.10:g.128502193G>T | NCBI36 |
| NG_017039.1:g.90651G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355497.10:c.*3642G>T | ENSP00000347684.5:n.*3642G>T | |
| ENST00000373474.9:c.*3642G>T MANE Select | ENSP00000362573.3:n.*3642G>T | |
| ENST00000526117.6:c.*3642G>T | ENSP00000436930.1:n.*3642G>T | |
| ENST00000355497.9:c.*3642G>T | ENSP00000347684.5:n.*3642G>T | |
| ENST00000373474.8:c.*3642G>T | ENSP00000362573.3:n.*3642G>T | |
| NM_001174146.1:c.*3642G>T | NP_001167617.1:n.*3642G>T | |
| NM_001174147.1:c.*3642G>T | NP_001167618.1:n.*3642G>T | |
| NM_002316.3:c.*3642G>T | NP_002307.2:n.*3642G>T | |
| NM_001174146.2:c.*3642G>T | NP_001167617.1:n.*3642G>T | |
| NM_001174147.2:c.*3642G>T MANE Select | NP_001167618.1:n.*3642G>T | |
| NM_002316.4:c.*3642G>T | NP_002307.2:n.*3642G>T |