Linked Data
ClinVar Variation Id:
2032348
ClinVar RCV Id:
RCV002899068
MyVariant Identifiers:
chr12:g.103245501G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851723G>T , CM000674.2:g.102851723G>T | GRCh38 |
| NC_000012.11:g.103245501G>T , CM000674.1:g.103245501G>T | GRCh37 |
| NC_000012.10:g.101769631G>T | NCBI36 |
| NG_008690.1:g.70880C>A | |
| NG_008690.2:g.111688C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.876C>A MANE Select | ENSP00000448059.1:p.Pro292= | |
| ENST00000307000.7:c.861C>A | ENSP00000303500.2:p.Pro287= | |
| ENST00000549247.6:n.635C>A | ||
| ENST00000551114.2:n.538C>A | ||
| ENST00000553106.5:c.876C>A | ENSP00000448059.1:p.Pro292= | |
| ENST00000635477.1:c.37C>A | ||
| NM_000277.1:c.876C>A | NP_000268.1:p.Pro292= | |
| XM_011538422.1:c.876C>A | XP_011536724.1:p.Pro292= | |
| NM_000277.2:c.876C>A | NP_000268.1:p.Pro292= | |
| NM_001354304.1:c.876C>A | NP_001341233.1:p.Pro292= | |
| NM_000277.3:c.876C>A MANE Select | NP_000268.1:p.Pro292= | |
| NM_001354304.2:c.876C>A | NP_001341233.1:p.Pro292= |