Linked Data
ClinVar Variation Id:
220051
dbSNP Id:
rs140832239
ExAC:
5:13721137 C / T
gnomAD v2:
5-13721137-C-T
gnomAD v3:
5-13721028-C-T
gnomAD v4:
5-13721028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13721028C>T , CM000667.2:g.13721028C>T | GRCh38 |
| NC_000005.9:g.13721137C>T , CM000667.1:g.13721137C>T | GRCh37 |
| NC_000005.8:g.13774137C>T | NCBI36 |
| NG_013081.1:g.228453G>A | |
| NG_013081.2:g.228453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12251G>A MANE Select | ENSP00000265104.4:p.Arg4084Gln | |
| ENST00000681290.1:c.12206G>A | ENSP00000505288.1:p.Arg4069Gln | |
| ENST00000265104.4:c.12251G>A | ENSP00000265104.4:p.Arg4084Gln | |
| NM_001369.2:c.12251G>A | NP_001360.1:p.Arg4084Gln | |
| XM_005248262.2:c.12206G>A | XP_005248319.1:p.Arg4069Gln | |
| XM_005248262.3:c.12359G>A | XP_005248319.2:p.Arg4120Gln | |
| XM_017009177.1:c.12359G>A | XP_016864666.1:p.Arg4120Gln | |
| XM_017009178.1:c.11264G>A | XP_016864667.1:p.Arg3755Gln | |
| XM_017009179.2:c.11264G>A | XP_016864668.1:p.Arg3755Gln | |
| XM_017009180.1:c.12359G>A | XP_016864669.1:p.Arg4120Gln | |
| XM_017009185.1:c.7448G>A | XP_016864674.1:p.Arg2483Gln | |
| XM_017009186.1:c.7001G>A | XP_016864675.1:p.Arg2334Gln | |
| XM_017009188.1:c.6338G>A | XP_016864677.1:p.Arg2113Gln | |
| XM_024454388.1:c.11264G>A | XP_024310156.1:p.Arg3755Gln | |
| XM_024454389.1:c.10853G>A | XP_024310157.1:p.Arg3618Gln | |
| NM_001369.3:c.12251G>A MANE Select | NP_001360.1:p.Arg4084Gln |