Linked Data
dbSNP Id:
rs750385175
gnomAD v3:
12-21196835-T-C
gnomAD v4:
12-21196835-T-C
MyVariant Identifiers:
chr12:g.21196835T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196835T>C , CM000674.2:g.21196835T>C | GRCh38 |
| NC_000012.11:g.21349769T>C , CM000674.1:g.21349769T>C | GRCh37 |
| NC_000012.10:g.21241036T>C | NCBI36 |
| NG_011745.1:g.70642T>C , LRG_1022:g.70642T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.728-111T>C MANE Select | ENSP00000256958.2:n.728-111T>C | |
| ENST00000256958.2:c.728-111T>C | ENSP00000256958.2:n.728-111T>C | |
| NM_006446.4:c.728-111T>C , LRG_1022t1:c.728-111T>C | NP_006437.3:n.728-111T>C | |
| NM_006446.5:c.728-111T>C MANE Select | NP_006437.3:n.728-111T>C |