Linked Data
MyVariant Identifiers:
chr7:g.142655037A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957950A>T , CM000669.2:g.142957950A>T | GRCh38 |
| NC_000007.13:g.142655037A>T , CM000669.1:g.142655037A>T | GRCh37 |
| NC_000007.12:g.142365159A>T | NCBI36 |
| NG_007492.1:g.9467T>A | |
| NG_007492.2:g.9467T>A | |
| NG_007492.3:g.9467T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.549T>A MANE Select | ENSP00000347409.2:p.Gly183= | |
| ENST00000467543.6:c.*401T>A | ENSP00000420011.2:n.*401T>A | |
| ENST00000355265.6:c.549T>A | ENSP00000347409.2:p.Gly183= | |
| ENST00000467543.5:c.492T>A | ENSP00000420011.1:p.Gly164= | |
| ENST00000476829.5:c.525+354T>A | ENSP00000419889.1:n.525+354T>A | |
| ENST00000479768.6:n.667T>A | ||
| ENST00000494148.1:n.148T>A | ||
| NM_000420.2:c.549T>A | NP_000411.1:p.Gly183= | |
| XM_005249993.2:c.585T>A | XP_005250050.1:p.Gly195= | |
| NM_000420.3:c.549T>A MANE Select | NP_000411.1:p.Gly183= |