Linked Data
dbSNP Id:
rs1731071426
gnomAD v4:
4-154604978-C-T
MyVariant Identifiers:
chr4:g.155526130C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604978C>T , CM000666.2:g.154604978C>T | GRCh38 |
| NC_000004.11:g.155526130C>T , CM000666.1:g.155526130C>T | GRCh37 |
| NC_000004.10:g.155745580C>T | NCBI36 |
| NG_008834.1:g.12773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1218G>A MANE Select | ENSP00000336829.3:p.Lys406= | |
| ENST00000336098.7:c.1218G>A | ENSP00000336829.3:p.Lys406= | |
| ENST00000404648.7:c.1218G>A | ENSP00000384860.3:p.Lys406= | |
| ENST00000405164.5:c.1242G>A | ENSP00000384101.1:p.Lys414= | |
| ENST00000407946.5:c.1242G>A | ENSP00000384552.1:p.Lys414= | |
| ENST00000465913.1:n.766G>A | ||
| ENST00000492082.5:n.1760G>A | ||
| NM_000509.4:c.1218G>A | NP_000500.2:p.Lys406= | |
| NM_000509.5:c.1218G>A | NP_000500.2:p.Lys406= | |
| NM_021870.2:c.1218G>A | NP_068656.2:p.Lys406= | |
| NM_021870.3:c.1218G>A MANE Select | NP_068656.2:p.Lys406= | |
| NM_000509.6:c.1218G>A | NP_000500.2:p.Lys406= |