Linked Data
dbSNP Id:
rs1555132463
gnomAD v2:
12-6979171-A-C
gnomAD v4:
12-6870007-A-C
MyVariant Identifiers:
chr12:g.6979171A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870007A>C , CM000674.2:g.6870007A>C | GRCh38 |
| NC_000012.11:g.6979171A>C , CM000674.1:g.6979171A>C | GRCh37 |
| NC_000012.10:g.6849432A>C | NCBI36 |
| NG_011948.1:g.7588A>C | |
| NG_013308.1:g.8351T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.544-42A>C MANE Select | ENSP00000379933.4:n.544-42A>C | |
| ENST00000229270.8:c.655-42A>C | ENSP00000229270.4:n.655-42A>C | |
| ENST00000396705.9:c.544-42A>C | ENSP00000379933.4:n.544-42A>C | |
| ENST00000482209.1:n.227-29A>C | ||
| ENST00000488464.6:c.298-42A>C | ENSP00000475620.1:n.298-42A>C | |
| ENST00000493987.5:c.298-42A>C | ENSP00000475364.1:n.298-42A>C | |
| ENST00000535434.5:c.298-42A>C | ENSP00000443599.1:n.298-42A>C | |
| ENST00000613953.4:c.655-42A>C | ENSP00000484435.1:n.655-42A>C | |
| NM_000365.5:c.544-42A>C | NP_000356.1:n.544-42A>C | |
| NM_001159287.1:c.655-42A>C | NP_001152759.1:n.655-42A>C | |
| NM_001258026.1:c.298-42A>C | NP_001244955.1:n.298-42A>C | |
| XR_002957378.1:n.1510A>C | ||
| NM_000365.6:c.544-42A>C MANE Select | NP_000356.1:n.544-42A>C | |
| NM_001258026.2:c.298-42A>C | NP_001244955.1:n.298-42A>C |