Linked Data
MyVariant Identifiers:
chr1:g.196965195T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996065T>A , CM000663.2:g.196996065T>A | GRCh38 |
| NC_000001.10:g.196965195T>A , CM000663.1:g.196965195T>A | GRCh37 |
| NC_000001.9:g.195231818T>A | NCBI36 |
| NG_016365.1:g.23529T>A , LRG_227:g.23529T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.579T>A | ENSP00000514393.1:p.Gly193= | |
| ENST00000699467.1:n.903T>A | ||
| ENST00000699468.1:c.-24-49T>A | ENSP00000514394.1:n.-24-49T>A | |
| ENST00000256785.5:c.834T>A MANE Select | ENSP00000256785.4:p.Gly278= | |
| ENST00000256785.4:c.834T>A | ENSP00000256785.4:p.Gly278= | |
| NM_030787.3:c.834T>A , LRG_227t1:c.834T>A | NP_110414.1:p.Gly278= | |
| XM_011510020.1:c.843T>A | XP_011508322.1:p.Gly281= | |
| XM_011510020.2:c.843T>A | XP_011508322.1:p.Gly281= | |
| NM_030787.4:c.834T>A MANE Select | NP_110414.1:p.Gly278= |