Linked Data
MyVariant Identifiers:
chr16:g.30748699T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737378T>G , CM000678.2:g.30737378T>G | GRCh38 |
| NC_000016.9:g.30748699T>G , CM000678.1:g.30748699T>G | GRCh37 |
| NC_000016.8:g.30656200T>G | NCBI36 |
| NG_032135.1:g.43238T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411466.7:c.7338T>G | ENSP00000405186.3:p.Thr2446= | |
| ENST00000704023.1:c.1593+25T>G | ||
| ENST00000706321.1:c.7338T>G | ENSP00000516346.1:p.Thr2446= | |
| ENST00000262518.9:c.7338T>G MANE Select | ENSP00000262518.4:p.Thr2446= | |
| ENST00000262518.8:c.7338T>G | ENSP00000262518.4:p.Thr2446= | |
| ENST00000380361.7:c.6807T>G | ENSP00000369719.3:p.Thr2269= | |
| ENST00000395059.6:c.6561T>G | ENSP00000378499.3:p.Thr2187= | |
| NM_006662.2:c.7338T>G | NP_006653.2:p.Thr2446= | |
| NM_006662.3:c.7338T>G MANE Select | NP_006653.2:p.Thr2446= |