Linked Data
ClinVar Variation Id:
2026554
ClinVar RCV Id:
RCV002858420
MyVariant Identifiers:
chr12:g.103234188A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840410A>G , CM000674.2:g.102840410A>G | GRCh38 |
| NC_000012.11:g.103234188A>G , CM000674.1:g.103234188A>G | GRCh37 |
| NC_000012.10:g.101758318A>G | NCBI36 |
| NG_008690.1:g.82193T>C | |
| NG_008690.2:g.123001T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1305T>C MANE Select | ENSP00000448059.1:p.Asp435= | |
| ENST00000307000.7:c.1290T>C | ENSP00000303500.2:p.Asp430= | |
| ENST00000551114.2:n.967T>C | ||
| ENST00000553106.5:c.1305T>C | ENSP00000448059.1:p.Asp435= | |
| ENST00000635477.1:c.409T>C | ||
| ENST00000635528.1:n.820T>C | ||
| NM_000277.1:c.1305T>C | NP_000268.1:p.Asp435= | |
| XM_011538422.1:c.1248T>C | XP_011536724.1:p.Asp416= | |
| NM_000277.2:c.1305T>C | NP_000268.1:p.Asp435= | |
| NM_001354304.1:c.1305T>C | NP_001341233.1:p.Asp435= | |
| NM_000277.3:c.1305T>C MANE Select | NP_000268.1:p.Asp435= | |
| NM_001354304.2:c.1305T>C | NP_001341233.1:p.Asp435= |