Linked Data
dbSNP Id:
rs374331353
ExAC:
12:6979566 A / C
gnomAD v2:
12-6979566-A-C
gnomAD v4:
12-6870402-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870402A>C , CM000674.2:g.6870402A>C | GRCh38 |
| NC_000012.11:g.6979566A>C , CM000674.1:g.6979566A>C | GRCh37 |
| NC_000012.10:g.6849827A>C | NCBI36 |
| NG_011948.1:g.7983A>C | |
| NG_013308.1:g.7956T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.*19A>C MANE Select | ENSP00000379933.4:n.*19A>C | |
| ENST00000229270.8:c.*19A>C | ENSP00000229270.4:n.*19A>C | |
| ENST00000396705.9:c.*19A>C | ENSP00000379933.4:n.*19A>C | |
| ENST00000474253.1:n.258A>C | ||
| ENST00000535434.5:c.*19A>C | ENSP00000443599.1:n.*19A>C | |
| ENST00000613953.4:c.*19A>C | ENSP00000484435.1:n.*19A>C | |
| NM_000365.5:c.*19A>C | NP_000356.1:n.*19A>C | |
| NM_001159287.1:c.*19A>C | NP_001152759.1:n.*19A>C | |
| NM_001258026.1:c.*19A>C | NP_001244955.1:n.*19A>C | |
| XR_002957378.1:n.1777A>C | ||
| NM_000365.6:c.*19A>C MANE Select | NP_000356.1:n.*19A>C | |
| NM_001258026.2:c.*19A>C | NP_001244955.1:n.*19A>C |