Linked Data
ClinVar Variation Id:
414429
dbSNP Id:
rs142438011
ExAC:
6:38994430 C / T
gnomAD v2:
6-38994430-C-T
gnomAD v3:
6-39026654-C-T
gnomAD v4:
6-39026654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39026654C>T , CM000668.2:g.39026654C>T | GRCh38 |
| NC_000006.11:g.38994430C>T , CM000668.1:g.38994430C>T | GRCh37 |
| NC_000006.10:g.39102408C>T | NCBI36 |
| NG_041805.1:g.316314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.13823C>T MANE Select | ENSP00000333363.7:p.Thr4608Met | |
| ENST00000327475.10:c.13823C>T | ENSP00000333363.7:p.Thr4608Met | |
| ENST00000359357.7:c.13172C>T | ENSP00000352312.3:p.Thr4391Met | |
| NM_001206927.1:c.13823C>T | NP_001193856.1:p.Thr4608Met | |
| XM_011514318.1:c.13760C>T | XP_011512620.1:p.Thr4587Met | |
| XM_011514319.1:c.13715C>T | XP_011512621.1:p.Thr4572Met | |
| XM_011514320.1:c.13586C>T | XP_011512622.1:p.Thr4529Met | |
| XM_011514321.1:c.13172C>T | XP_011512623.1:p.Thr4391Met | |
| NM_001371.3:c.13172C>T | NP_001362.2:p.Thr4391Met | |
| XM_011514318.2:c.13760C>T | XP_011512620.1:p.Thr4587Met | |
| XM_011514319.2:c.13715C>T | XP_011512621.1:p.Thr4572Met | |
| XM_011514320.2:c.13586C>T | XP_011512622.1:p.Thr4529Met | |
| NM_001206927.2:c.13823C>T MANE Select | NP_001193856.1:p.Thr4608Met | |
| NM_001371.4:c.13172C>T | NP_001362.2:p.Thr4391Met |