Linked Data
dbSNP Id:
rs746612001
ExAC:
5:13692218 A / G
gnomAD v2:
5-13692218-A-G
gnomAD v4:
5-13692109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692109A>G , CM000667.2:g.13692109A>G | GRCh38 |
| NC_000005.9:g.13692218A>G , CM000667.1:g.13692218A>G | GRCh37 |
| NC_000005.8:g.13745218A>G | NCBI36 |
| NG_013081.1:g.257372T>C | |
| NG_013081.2:g.257372T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1083T>C | ||
| ENST00000265104.5:c.13750T>C MANE Select | ENSP00000265104.4:p.Cys4584Arg | |
| ENST00000681290.1:c.13705T>C | ENSP00000505288.1:p.Cys4569Arg | |
| ENST00000265104.4:c.13750T>C | ENSP00000265104.4:p.Cys4584Arg | |
| NM_001369.2:c.13750T>C | NP_001360.1:p.Cys4584Arg | |
| XM_005248262.2:c.13705T>C | XP_005248319.1:p.Cys4569Arg | |
| XM_005248262.3:c.13858T>C | XP_005248319.2:p.Cys4620Arg | |
| XM_017009177.1:c.13438T>C | XP_016864666.1:p.Cys4480Arg | |
| XM_017009178.1:c.12763T>C | XP_016864667.1:p.Cys4255Arg | |
| XM_017009179.2:c.12763T>C | XP_016864668.1:p.Cys4255Arg | |
| XM_017009185.1:c.8947T>C | XP_016864674.1:p.Cys2983Arg | |
| XM_017009186.1:c.8500T>C | XP_016864675.1:p.Cys2834Arg | |
| XM_017009188.1:c.7837T>C | XP_016864677.1:p.Cys2613Arg | |
| XM_024454388.1:c.12763T>C | XP_024310156.1:p.Cys4255Arg | |
| XM_024454389.1:c.12352T>C | XP_024310157.1:p.Cys4118Arg | |
| NM_001369.3:c.13750T>C MANE Select | NP_001360.1:p.Cys4584Arg |