Linked Data
MyVariant Identifiers:
chr15:g.41223954T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931756T>C , CM000677.2:g.40931756T>C | GRCh38 |
| NC_000015.9:g.41223954T>C , CM000677.1:g.41223954T>C | GRCh37 |
| NC_000015.8:g.39011246T>C | NCBI36 |
| NG_046974.1:g.7424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.648T>C MANE Select | ENSP00000249749.5:p.Tyr216= | |
| ENST00000249749.6:c.648T>C | ENSP00000249749.5:p.Tyr216= | |
| ENST00000559440.1:n.877T>C | ||
| NM_019074.3:c.648T>C | NP_061947.1:p.Tyr216= | |
| NM_019074.4:c.648T>C MANE Select | NP_061947.1:p.Tyr216= |