Linked Data
ClinVar Variation Id:
1199293
dbSNP Id:
rs779624238
ExAC:
5:13736032 C / T
gnomAD v2:
5-13736032-C-T
gnomAD v3:
5-13735923-C-T
gnomAD v4:
5-13735923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735923C>T , CM000667.2:g.13735923C>T | GRCh38 |
| NC_000005.9:g.13736032C>T , CM000667.1:g.13736032C>T | GRCh37 |
| NC_000005.8:g.13789032C>T | NCBI36 |
| NG_013081.1:g.213558G>A | |
| NG_013081.2:g.213558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11465G>A MANE Select | ENSP00000265104.4:p.Arg3822Gln | |
| ENST00000681290.1:c.11420G>A | ENSP00000505288.1:p.Arg3807Gln | |
| ENST00000265104.4:c.11465G>A | ENSP00000265104.4:p.Arg3822Gln | |
| NM_001369.2:c.11465G>A | NP_001360.1:p.Arg3822Gln | |
| XM_005248262.2:c.11420G>A | XP_005248319.1:p.Arg3807Gln | |
| XM_005248262.3:c.11573G>A | XP_005248319.2:p.Arg3858Gln | |
| XM_017009177.1:c.11573G>A | XP_016864666.1:p.Arg3858Gln | |
| XM_017009178.1:c.10478G>A | XP_016864667.1:p.Arg3493Gln | |
| XM_017009179.2:c.10478G>A | XP_016864668.1:p.Arg3493Gln | |
| XM_017009180.1:c.11573G>A | XP_016864669.1:p.Arg3858Gln | |
| XM_017009181.1:c.11573G>A | XP_016864670.1:p.Arg3858Gln | |
| XM_017009182.1:c.11329G>A | XP_016864671.1:p.Gly3777Arg | |
| XM_017009185.1:c.6662G>A | XP_016864674.1:p.Arg2221Gln | |
| XM_017009186.1:c.6215G>A | XP_016864675.1:p.Arg2072Gln | |
| XM_017009188.1:c.5552G>A | XP_016864677.1:p.Arg1851Gln | |
| XM_024454388.1:c.10478G>A | XP_024310156.1:p.Arg3493Gln | |
| XM_024454389.1:c.10067G>A | XP_024310157.1:p.Arg3356Gln | |
| NM_001369.3:c.11465G>A MANE Select | NP_001360.1:p.Arg3822Gln |