Linked Data
dbSNP Id:
rs1946420063
gnomAD v3:
12-6534749-A-G
gnomAD v4:
12-6534749-A-G
COSMIC:
COSN20354436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534749A>G , CM000674.2:g.6534749A>G | GRCh38 |
| NC_000012.11:g.6643915A>G , CM000674.1:g.6643915A>G | GRCh37 |
| NC_000012.10:g.6514176A>G | NCBI36 |
| NG_007073.2:g.5259A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229239.10:c.-23-61A>G MANE Select | ENSP00000229239.5:n.-23-61A>G | |
| ENST00000229239.9:c.-23-61A>G | ENSP00000229239.5:n.-23-61A>G | |
| ENST00000396856.5:c.-275-61A>G | ENSP00000380065.1:n.-275-61A>G | |
| ENST00000396861.5:c.-23-61A>G | ENSP00000380070.1:n.-23-61A>G | |
| ENST00000474249.5:n.30-61A>G | ||
| ENST00000492719.5:n.38-61A>G | ||
| ENST00000496049.1:n.59-61A>G | ||
| NM_001289745.1:c.-23-61A>G | NP_001276674.1:n.-23-61A>G | |
| NM_001289746.1:c.-84A>G | NP_001276675.1:n.-84A>G | |
| NM_002046.5:c.-23-61A>G | NP_002037.2:n.-23-61A>G | |
| NM_001289745.2:c.-23-61A>G | NP_001276674.1:n.-23-61A>G | |
| NM_001357943.1:c.-23-61A>G | NP_001344872.1:n.-23-61A>G | |
| NM_002046.6:c.-23-61A>G | NP_002037.2:n.-23-61A>G | |
| NR_152150.1:n.54-61A>G | ||
| NM_002046.7:c.-23-61A>G MANE Select | NP_002037.2:n.-23-61A>G | |
| NM_001289745.3:c.-23-61A>G | NP_001276674.1:n.-23-61A>G | |
| NM_001289746.2:c.-84A>G | NP_001276675.1:n.-84A>G | |
| NM_001357943.2:c.-23-61A>G | NP_001344872.1:n.-23-61A>G | |
| NR_152150.2:n.54-61A>G |