Linked Data
MyVariant Identifiers:
chr9:g.132576388G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814109G>T , CM000671.2:g.129814109G>T | GRCh38 |
| NC_000009.11:g.132576388G>T , CM000671.1:g.132576388G>T | GRCh37 |
| NC_000009.10:g.131616209G>T | NCBI36 |
| NG_008049.1:g.15054C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.862C>A MANE Select | ENSP00000345719.4:p.Arg288= | |
| ENST00000651202.1:c.*130C>A | ENSP00000498222.1:n.*130C>A | |
| ENST00000351698.4:c.862C>A | ENSP00000345719.4:p.Arg288= | |
| ENST00000474192.1:n.446C>A | ||
| NM_000113.2:c.862C>A | NP_000104.1:p.Arg288= | |
| XR_929731.1:n.1189C>A | ||
| XR_929731.3:n.1057C>A | ||
| NM_000113.3:c.862C>A MANE Select | NP_000104.1:p.Arg288= |