Linked Data
ClinVar Variation Id:
1133184
ClinVar RCV Id:
RCV001467699
MyVariant Identifiers:
chr12:g.103240691G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846913G>A , CM000674.2:g.102846913G>A | GRCh38 |
| NC_000012.11:g.103240691G>A , CM000674.1:g.103240691G>A | GRCh37 |
| NC_000012.10:g.101764821G>A | NCBI36 |
| NG_008690.1:g.75690C>T | |
| NG_008690.2:g.116498C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.951C>T MANE Select | ENSP00000448059.1:p.Tyr317= | |
| ENST00000307000.7:c.936C>T | ENSP00000303500.2:p.Tyr312= | |
| ENST00000549247.6:n.710C>T | ||
| ENST00000551114.2:n.613C>T | ||
| ENST00000553106.5:c.951C>T | ENSP00000448059.1:p.Tyr317= | |
| ENST00000635477.1:n.74-2482C>T | ||
| ENST00000635528.1:n.466C>T | ||
| NM_000277.1:c.951C>T | NP_000268.1:p.Tyr317= | |
| XM_011538422.1:c.913-2482C>T | XP_011536724.1:n.913-2482C>T | |
| NM_000277.2:c.951C>T | NP_000268.1:p.Tyr317= | |
| NM_001354304.1:c.951C>T | NP_001341233.1:p.Tyr317= | |
| NM_000277.3:c.951C>T MANE Select | NP_000268.1:p.Tyr317= | |
| NM_001354304.2:c.951C>T | NP_001341233.1:p.Tyr317= |