Linked Data
dbSNP Id:
rs8283
gnomAD v2:
6-32083300-A-G
gnomAD v3:
6-32115523-A-G
gnomAD v4:
6-32115523-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32115523A>G , CM000668.2:g.32115523A>G | GRCh38 |
| NC_000006.11:g.32083300A>G , CM000668.1:g.32083300A>G | GRCh37 |
| NC_000006.10:g.32191278A>G | NCBI36 |
| NG_033940.1:g.17718T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375203.8:c.*216T>C MANE Select | ENSP00000364349.3:n.*216T>C | |
| ENST00000453203.2:c.*467T>C | ENSP00000393419.2:n.*467T>C | |
| ENST00000375201.8:c.*216T>C | ENSP00000364347.4:n.*216T>C | |
| ENST00000375203.7:c.*216T>C | ENSP00000364349.3:n.*216T>C | |
| ENST00000494022.1:n.289+1181T>C | ||
| NM_001136153.1:c.*216T>C | NP_001129625.1:n.*216T>C | |
| NM_004381.4:c.*216T>C | NP_004372.3:n.*216T>C | |
| NM_004381.5:c.*216T>C MANE Select | NP_004372.3:n.*216T>C | |
| NM_001136153.2:c.*216T>C | NP_001129625.1:n.*216T>C |