Linked Data
ClinVar Variation Id:
454741
dbSNP Id:
rs145400611
ExAC:
5:13708395 A / C
gnomAD v2:
5-13708395-A-C
gnomAD v3:
5-13708286-A-C
gnomAD v4:
5-13708286-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708286A>C , CM000667.2:g.13708286A>C | GRCh38 |
| NC_000005.9:g.13708395A>C , CM000667.1:g.13708395A>C | GRCh37 |
| NC_000005.8:g.13761395A>C | NCBI36 |
| NG_013081.1:g.241195T>G | |
| NG_013081.2:g.241195T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.508T>G | ||
| ENST00000265104.5:c.13175T>G MANE Select | ENSP00000265104.4:p.Phe4392Cys | |
| ENST00000681290.1:c.13130T>G | ENSP00000505288.1:p.Phe4377Cys | |
| ENST00000265104.4:c.13175T>G | ENSP00000265104.4:p.Phe4392Cys | |
| NM_001369.2:c.13175T>G | NP_001360.1:p.Phe4392Cys | |
| XM_005248262.2:c.13130T>G | XP_005248319.1:p.Phe4377Cys | |
| XM_005248262.3:c.13283T>G | XP_005248319.2:p.Phe4428Cys | |
| XM_017009177.1:c.12863T>G | XP_016864666.1:p.Phe4288Cys | |
| XM_017009178.1:c.12188T>G | XP_016864667.1:p.Phe4063Cys | |
| XM_017009179.2:c.12188T>G | XP_016864668.1:p.Phe4063Cys | |
| XM_017009185.1:c.8372T>G | XP_016864674.1:p.Phe2791Cys | |
| XM_017009186.1:c.7925T>G | XP_016864675.1:p.Phe2642Cys | |
| XM_017009188.1:c.7262T>G | XP_016864677.1:p.Phe2421Cys | |
| XM_024454388.1:c.12188T>G | XP_024310156.1:p.Phe4063Cys | |
| XM_024454389.1:c.11777T>G | XP_024310157.1:p.Phe3926Cys | |
| NM_001369.3:c.13175T>G MANE Select | NP_001360.1:p.Phe4392Cys |