Linked Data
ClinVar Variation Id:
454809
ClinVar RCV Id:
RCV000535963
dbSNP Id:
rs753130398
ExAC:
5:13788974 C / T
gnomAD v2:
5-13788974-C-T
gnomAD v3:
5-13788865-C-T
gnomAD v4:
5-13788865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13788865C>T , CM000667.2:g.13788865C>T | GRCh38 |
| NC_000005.9:g.13788974C>T , CM000667.1:g.13788974C>T | GRCh37 |
| NC_000005.8:g.13841974C>T | NCBI36 |
| NG_013081.1:g.160616G>A | |
| NG_013081.2:g.160616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8498G>A MANE Select | ENSP00000265104.4:p.Arg2833His | |
| ENST00000681290.1:c.8453G>A | ENSP00000505288.1:p.Arg2818His | |
| ENST00000265104.4:c.8498G>A | ENSP00000265104.4:p.Arg2833His | |
| NM_001369.2:c.8498G>A | NP_001360.1:p.Arg2833His | |
| XM_005248262.2:c.8453G>A | XP_005248319.1:p.Arg2818His | |
| XM_011513990.1:c.8498G>A | XP_011512292.1:p.Arg2833His | |
| XR_925598.1:n.8705G>A | ||
| XM_005248262.3:c.8606G>A | XP_005248319.2:p.Arg2869His | |
| XM_017009177.1:c.8606G>A | XP_016864666.1:p.Arg2869His | |
| XM_017009178.1:c.7511G>A | XP_016864667.1:p.Arg2504His | |
| XM_017009179.2:c.7511G>A | XP_016864668.1:p.Arg2504His | |
| XM_017009180.1:c.8606G>A | XP_016864669.1:p.Arg2869His | |
| XM_017009181.1:c.8606G>A | XP_016864670.1:p.Arg2869His | |
| XM_017009182.1:c.8606G>A | XP_016864671.1:p.Arg2869His | |
| XM_017009183.1:c.8606G>A | XP_016864672.1:p.Arg2869His | |
| XM_017009184.1:c.8606G>A | XP_016864673.1:p.Arg2869His | |
| XM_017009185.1:c.3695G>A | XP_016864674.1:p.Arg1232His | |
| XM_017009186.1:c.3248G>A | XP_016864675.1:p.Arg1083His | |
| XM_017009188.1:c.2585G>A | XP_016864677.1:p.Arg862His | |
| XM_024454388.1:c.7511G>A | XP_024310156.1:p.Arg2504His | |
| XM_024454389.1:c.7100G>A | XP_024310157.1:p.Arg2367His | |
| XR_001742034.1:n.8623G>A | ||
| XR_001742035.1:n.8623G>A | ||
| NM_001369.3:c.8498G>A MANE Select | NP_001360.1:p.Arg2833His |