Linked Data
MyVariant Identifiers:
chr19:g.41351280T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845375T>C , CM000681.2:g.40845375T>C | GRCh38 |
| NC_000019.9:g.41351280T>C , CM000681.1:g.41351280T>C | GRCh37 |
| NC_000019.8:g.46043120T>C | NCBI36 |
| NG_008377.1:g.10073A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.1080A>G MANE Select | ENSP00000301141.4:p.Gln360= | |
| ENST00000301141.9:c.1080A>G | ENSP00000301141.4:p.Gln360= | |
| ENST00000596719.5:n.931A>G | ||
| ENST00000601627.1:c.119+43960T>C | ||
| ENST00000610301.1:c.1080A>G | ENSP00000477899.1:p.Gln360= | |
| NM_000762.5:c.1080A>G | NP_000753.3:p.Gln360= | |
| NM_000762.6:c.1080A>G MANE Select | NP_000753.3:p.Gln360= |