Linked Data
dbSNP Id:
rs751567040
ExAC:
5:13717500 T / C
gnomAD v2:
5-13717500-T-C
gnomAD v3:
5-13717391-T-C
gnomAD v4:
5-13717391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717391T>C , CM000667.2:g.13717391T>C | GRCh38 |
| NC_000005.9:g.13717500T>C , CM000667.1:g.13717500T>C | GRCh37 |
| NC_000005.8:g.13770500T>C | NCBI36 |
| NG_013081.1:g.232090A>G | |
| NG_013081.2:g.232090A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12629A>G MANE Select | ENSP00000265104.4:p.Tyr4210Cys | |
| ENST00000681290.1:c.12584A>G | ENSP00000505288.1:p.Tyr4195Cys | |
| ENST00000265104.4:c.12629A>G | ENSP00000265104.4:p.Tyr4210Cys | |
| NM_001369.2:c.12629A>G | NP_001360.1:p.Tyr4210Cys | |
| XM_005248262.2:c.12584A>G | XP_005248319.1:p.Tyr4195Cys | |
| XM_005248262.3:c.12737A>G | XP_005248319.2:p.Tyr4246Cys | |
| XM_017009177.1:c.12737A>G | XP_016864666.1:p.Tyr4246Cys | |
| XM_017009178.1:c.11642A>G | XP_016864667.1:p.Tyr3881Cys | |
| XM_017009179.2:c.11642A>G | XP_016864668.1:p.Tyr3881Cys | |
| XM_017009180.1:c.12737A>G | XP_016864669.1:p.Tyr4246Cys | |
| XM_017009185.1:c.7826A>G | XP_016864674.1:p.Tyr2609Cys | |
| XM_017009186.1:c.7379A>G | XP_016864675.1:p.Tyr2460Cys | |
| XM_017009188.1:c.6716A>G | XP_016864677.1:p.Tyr2239Cys | |
| XM_024454388.1:c.11642A>G | XP_024310156.1:p.Tyr3881Cys | |
| XM_024454389.1:c.11231A>G | XP_024310157.1:p.Tyr3744Cys | |
| NM_001369.3:c.12629A>G MANE Select | NP_001360.1:p.Tyr4210Cys |