Linked Data
ClinVar Variation Id:
525409
dbSNP Id:
rs749862482
ExAC:
5:13692223 T / C
gnomAD v2:
5-13692223-T-C
gnomAD v3:
5-13692114-T-C
gnomAD v4:
5-13692114-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692114T>C , CM000667.2:g.13692114T>C | GRCh38 |
| NC_000005.9:g.13692223T>C , CM000667.1:g.13692223T>C | GRCh37 |
| NC_000005.8:g.13745223T>C | NCBI36 |
| NG_013081.1:g.257367A>G | |
| NG_013081.2:g.257367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1078A>G | ||
| ENST00000265104.5:c.13745A>G MANE Select | ENSP00000265104.4:p.Tyr4582Cys | |
| ENST00000681290.1:c.13700A>G | ENSP00000505288.1:p.Tyr4567Cys | |
| ENST00000265104.4:c.13745A>G | ENSP00000265104.4:p.Tyr4582Cys | |
| NM_001369.2:c.13745A>G | NP_001360.1:p.Tyr4582Cys | |
| XM_005248262.2:c.13700A>G | XP_005248319.1:p.Tyr4567Cys | |
| XM_005248262.3:c.13853A>G | XP_005248319.2:p.Tyr4618Cys | |
| XM_017009177.1:c.13433A>G | XP_016864666.1:p.Tyr4478Cys | |
| XM_017009178.1:c.12758A>G | XP_016864667.1:p.Tyr4253Cys | |
| XM_017009179.2:c.12758A>G | XP_016864668.1:p.Tyr4253Cys | |
| XM_017009185.1:c.8942A>G | XP_016864674.1:p.Tyr2981Cys | |
| XM_017009186.1:c.8495A>G | XP_016864675.1:p.Tyr2832Cys | |
| XM_017009188.1:c.7832A>G | XP_016864677.1:p.Tyr2611Cys | |
| XM_024454388.1:c.12758A>G | XP_024310156.1:p.Tyr4253Cys | |
| XM_024454389.1:c.12347A>G | XP_024310157.1:p.Tyr4116Cys | |
| NM_001369.3:c.13745A>G MANE Select | NP_001360.1:p.Tyr4582Cys |