Linked Data
ClinVar Variation Id:
308500
ClinVar RCV Id:
RCV000311450
dbSNP Id:
rs886049319
gnomAD v4:
12-32792244-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32792244G>C , CM000674.2:g.32792244G>C | GRCh38 |
| NC_000012.11:g.32945178G>C , CM000674.1:g.32945178G>C | GRCh37 |
| NC_000012.10:g.32836445G>C | NCBI36 |
| NG_009000.1:g.109603C>G , LRG_398:g.109603C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.1197C>G | ||
| ENST00000700557.2:n.786C>G | ||
| ENST00000700559.2:c.*35C>G | ENSP00000515065.2:n.*35C>G | |
| ENST00000546498.2:n.1381C>G | ||
| ENST00000549461.2:n.1186C>G | ||
| ENST00000700555.1:c.*180C>G | ENSP00000515062.1:n.*180C>G | |
| ENST00000700556.1:c.1165C>G | ||
| ENST00000700557.1:c.*180C>G | ENSP00000515064.1:n.*180C>G | |
| ENST00000700558.1:n.908C>G | ||
| ENST00000700559.1:c.1719C>G | ||
| ENST00000700560.1:n.2060C>G | ||
| ENST00000070846.11:c.*180C>G | ENSP00000070846.6:n.*180C>G | |
| ENST00000340811.9:c.*180C>G MANE Select | ENSP00000342800.5:n.*180C>G | |
| ENST00000070846.10:c.*180C>G | ENSP00000070846.6:n.*180C>G | |
| ENST00000340811.8:c.*180C>G | ENSP00000342800.4:n.*180C>G | |
| ENST00000546769.1:n.481C>G | ||
| NM_001005242.2:c.*180C>G | NP_001005242.2:n.*180C>G | |
| NM_004572.3:c.*180C>G , LRG_398t1:c.*180C>G | NP_004563.2:n.*180C>G | |
| NM_001005242.3:c.*180C>G MANE Select | NP_001005242.2:n.*180C>G | |
| NM_004572.4:c.*180C>G | NP_004563.2:n.*180C>G |