Linked Data
dbSNP Id:
rs2030973834
gnomAD v3:
9-129814209-G-A
gnomAD v4:
9-129814209-G-A
MyVariant Identifiers:
chr9:g.132576488G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814209G>A , CM000671.2:g.129814209G>A | GRCh38 |
| NC_000009.11:g.132576488G>A , CM000671.1:g.132576488G>A | GRCh37 |
| NC_000009.10:g.131616309G>A | NCBI36 |
| NG_008049.1:g.14954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.762C>T MANE Select | ENSP00000345719.4:p.His254= | |
| ENST00000651202.1:c.*30C>T | ENSP00000498222.1:n.*30C>T | |
| ENST00000351698.4:c.762C>T | ENSP00000345719.4:p.His254= | |
| ENST00000474192.1:n.346C>T | ||
| NM_000113.2:c.762C>T | NP_000104.1:p.His254= | |
| XR_929731.1:n.1089C>T | ||
| XR_929731.3:n.957C>T | ||
| NM_000113.3:c.762C>T MANE Select | NP_000104.1:p.His254= |