Linked Data
dbSNP Id:
rs1732844468
gnomAD v3:
4-154744695-G-T
gnomAD v4:
4-154744695-G-T
MyVariant Identifiers:
chr4:g.155665847G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744695G>T , CM000666.2:g.154744695G>T | GRCh38 |
| NC_000004.11:g.155665847G>T , CM000666.1:g.155665847G>T | GRCh37 |
| NC_000004.10:g.155885297G>T | NCBI36 |
| NG_009110.1:g.5685G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.369G>T MANE Select | ENSP00000337224.3:p.Leu123= | |
| ENST00000336356.3:c.369G>T | ENSP00000337224.3:p.Leu123= | |
| ENST00000499392.1:n.472-3494G>T | ||
| ENST00000507827.5:c.369G>T | ENSP00000426761.1:p.Leu123= | |
| ENST00000510733.1:n.696G>T | ||
| NM_001301645.1:c.369G>T | NP_001288574.1:p.Leu123= | |
| NM_004744.4:c.369G>T | NP_004735.2:p.Leu123= | |
| XM_006714412.2:c.369G>T | XP_006714475.1:p.Leu123= | |
| XR_938793.1:n.705G>T | ||
| XR_938793.2:n.701G>T | ||
| NM_004744.5:c.369G>T MANE Select | NP_004735.2:p.Leu123= | |
| NM_001301645.2:c.369G>T | NP_001288574.1:p.Leu123= |