Linked Data
ClinVar Variation Id:
216542
dbSNP Id:
rs769458738
ExAC:
5:13753598 C / T
gnomAD v2:
5-13753598-C-T
gnomAD v3:
5-13753489-C-T
gnomAD v4:
5-13753489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753489C>T , CM000667.2:g.13753489C>T | GRCh38 |
| NC_000005.9:g.13753598C>T , CM000667.1:g.13753598C>T | GRCh37 |
| NC_000005.8:g.13806598C>T | NCBI36 |
| NG_013081.1:g.195992G>A | |
| NG_013081.2:g.195992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10616G>A MANE Select | ENSP00000265104.4:p.Arg3539His | |
| ENST00000681290.1:c.10571G>A | ENSP00000505288.1:p.Arg3524His | |
| ENST00000265104.4:c.10616G>A | ENSP00000265104.4:p.Arg3539His | |
| NM_001369.2:c.10616G>A | NP_001360.1:p.Arg3539His | |
| XM_005248262.2:c.10571G>A | XP_005248319.1:p.Arg3524His | |
| XM_005248262.3:c.10724G>A | XP_005248319.2:p.Arg3575His | |
| XM_017009177.1:c.10724G>A | XP_016864666.1:p.Arg3575His | |
| XM_017009178.1:c.9629G>A | XP_016864667.1:p.Arg3210His | |
| XM_017009179.2:c.9629G>A | XP_016864668.1:p.Arg3210His | |
| XM_017009180.1:c.10724G>A | XP_016864669.1:p.Arg3575His | |
| XM_017009181.1:c.10724G>A | XP_016864670.1:p.Arg3575His | |
| XM_017009182.1:c.10724G>A | XP_016864671.1:p.Arg3575His | |
| XM_017009185.1:c.5813G>A | XP_016864674.1:p.Arg1938His | |
| XM_017009186.1:c.5366G>A | XP_016864675.1:p.Arg1789His | |
| XM_017009188.1:c.4703G>A | XP_016864677.1:p.Arg1568His | |
| XM_024454388.1:c.9629G>A | XP_024310156.1:p.Arg3210His | |
| XM_024454389.1:c.9218G>A | XP_024310157.1:p.Arg3073His | |
| NM_001369.3:c.10616G>A MANE Select | NP_001360.1:p.Arg3539His |