Linked Data
MyVariant Identifiers:
chr12:g.34179769T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.34026834T>A , CM000674.2:g.34026834T>A | GRCh38 |
| NC_000012.11:g.34179769T>A , CM000674.1:g.34179769T>A | GRCh37 |
| NC_000012.10:g.34071036T>A | NCBI36 |
| NG_016389.1:g.9554T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266483.7:c.1341T>A MANE Select | ENSP00000266483.2:p.Val447= | |
| ENST00000266483.6:c.1341T>A | ENSP00000266483.2:p.Val447= | |
| ENST00000538927.1:c.369+2675T>A | ENSP00000444084.1:n.369+2675T>A | |
| ENST00000541875.1:c.*1081T>A | ENSP00000443142.1:n.*1081T>A | |
| NM_032834.3:c.1341T>A | NP_116223.3:p.Val447= | |
| XM_024449230.1:c.1161T>A | XP_024304998.1:p.Val387= | |
| XM_024449231.1:c.1161T>A | XP_024304999.1:p.Val387= | |
| NM_032834.4:c.1341T>A MANE Select | NP_116223.3:p.Val447= |