Linked Data
dbSNP Id:
rs914963488
gnomAD v2:
5-95728996-C-T
gnomAD v3:
5-96393292-C-T
gnomAD v4:
5-96393292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393292C>T , CM000667.2:g.96393292C>T | GRCh38 |
| NC_000005.9:g.95728996C>T , CM000667.1:g.95728996C>T | GRCh37 |
| NC_000005.8:g.95754752C>T | NCBI36 |
| NG_021161.1:g.44990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1971G>A MANE Select | ENSP00000308024.2:p.Glu657= | |
| ENST00000311106.7:c.1971G>A | ENSP00000308024.2:p.Glu657= | |
| ENST00000508626.5:c.1830G>A | ENSP00000421600.1:p.Glu610= | |
| ENST00000513085.1:n.1114G>A | ||
| NM_000439.4:c.1971G>A | NP_000430.3:p.Glu657= | |
| NM_001177875.1:c.1830G>A | NP_001171346.1:p.Glu610= | |
| NR_130776.1:n.354+13640C>T | ||
| NM_000439.5:c.1971G>A MANE Select | NP_000430.3:p.Glu657= | |
| NM_001177875.2:c.1830G>A | NP_001171346.1:p.Glu610= |