Linked Data
ClinVar Variation Id:
281095
dbSNP Id:
rs6182
ExAC:
5:42718928 G / T
gnomAD v2:
5-42718928-G-T
gnomAD v3:
5-42718826-G-T
gnomAD v4:
5-42718826-G-T
PubMed:
PMID:8421103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42718826G>T , CM000667.2:g.42718826G>T | GRCh38 |
| NC_000005.9:g.42718928G>T , CM000667.1:g.42718928G>T | GRCh37 |
| NC_000005.8:g.42754685G>T | NCBI36 |
| NG_011688.1:g.299903G>T | |
| NG_011688.2:g.299903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230882.9:c.1319G>T MANE Select | ENSP00000230882.4:p.Cys440Phe | |
| ENST00000230882.8:c.1319G>T | ENSP00000230882.4:p.Cys440Phe | |
| ENST00000357703.6:c.1253G>T | ENSP00000350335.3:p.Cys418Phe | |
| ENST00000511135.5:c.*931G>T | ENSP00000422333.1:n.*931G>T | |
| ENST00000537449.5:c.1319G>T | ENSP00000442206.2:p.Cys440Phe | |
| ENST00000612382.4:c.1319G>T | ENSP00000478332.1:p.Cys440Phe | |
| ENST00000612626.4:c.1319G>T | ENSP00000479846.1:p.Cys440Phe | |
| ENST00000615111.4:c.1319G>T | ENSP00000478291.1:p.Cys440Phe | |
| ENST00000618088.4:c.1319G>T | ENSP00000482373.1:p.Cys440Phe | |
| ENST00000620156.4:c.1340G>T | ENSP00000483403.1:p.Cys447Phe | |
| ENST00000622294.2:c.*361G>T | ENSP00000483926.1:n.*361G>T | |
| NM_000163.4:c.1319G>T | NP_000154.1:p.Cys440Phe | |
| NM_001242399.2:c.1340G>T | NP_001229328.1:p.Cys447Phe | |
| NM_001242400.2:c.1319G>T | NP_001229329.1:p.Cys440Phe | |
| NM_001242401.3:c.1319G>T | NP_001229330.1:p.Cys440Phe | |
| NM_001242402.2:c.1319G>T | NP_001229331.1:p.Cys440Phe | |
| NM_001242403.2:c.1319G>T | NP_001229332.1:p.Cys440Phe | |
| NM_001242404.2:c.1319G>T | NP_001229333.1:p.Cys440Phe | |
| NM_001242405.2:c.1319G>T | NP_001229334.1:p.Cys440Phe | |
| NM_001242406.2:c.1319G>T | NP_001229335.1:p.Cys440Phe | |
| NM_001242460.1:c.1253G>T | NP_001229389.1:p.Cys418Phe | |
| NM_001242462.1:c.*361G>T | NP_001229391.1:n.*361G>T | |
| XM_011514031.1:c.1274G>T | XP_011512333.1:p.Cys425Phe | |
| NM_000163.5:c.1319G>T MANE Select | NP_000154.1:p.Cys440Phe | |
| NM_001242401.4:c.1319G>T | NP_001229330.1:p.Cys440Phe | |
| NM_001242403.3:c.1319G>T | NP_001229332.1:p.Cys440Phe |