Linked Data
ClinVar Variation Id:
454812
dbSNP Id:
rs184758570
ExAC:
5:13781061 C / T
gnomAD v2:
5-13781061-C-T
gnomAD v3:
5-13780952-C-T
gnomAD v4:
5-13780952-C-T
COSMIC:
COSM1061397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13780952C>T , CM000667.2:g.13780952C>T | GRCh38 |
| NC_000005.9:g.13781061C>T , CM000667.1:g.13781061C>T | GRCh37 |
| NC_000005.8:g.13834061C>T | NCBI36 |
| NG_013081.1:g.168529G>A | |
| NG_013081.2:g.168529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8828G>A MANE Select | ENSP00000265104.4:p.Arg2943His | |
| ENST00000681290.1:c.8783G>A | ENSP00000505288.1:p.Arg2928His | |
| ENST00000265104.4:c.8828G>A | ENSP00000265104.4:p.Arg2943His | |
| NM_001369.2:c.8828G>A | NP_001360.1:p.Arg2943His | |
| XM_005248262.2:c.8783G>A | XP_005248319.1:p.Arg2928His | |
| XM_011513990.1:c.8828G>A | XP_011512292.1:p.Arg2943His | |
| XR_925598.1:n.9028-3597G>A | ||
| XM_005248262.3:c.8936G>A | XP_005248319.2:p.Arg2979His | |
| XM_017009177.1:c.8936G>A | XP_016864666.1:p.Arg2979His | |
| XM_017009178.1:c.7841G>A | XP_016864667.1:p.Arg2614His | |
| XM_017009179.2:c.7841G>A | XP_016864668.1:p.Arg2614His | |
| XM_017009180.1:c.8936G>A | XP_016864669.1:p.Arg2979His | |
| XM_017009181.1:c.8936G>A | XP_016864670.1:p.Arg2979His | |
| XM_017009182.1:c.8936G>A | XP_016864671.1:p.Arg2979His | |
| XM_017009183.1:c.8936G>A | XP_016864672.1:p.Arg2979His | |
| XM_017009184.1:c.8936G>A | XP_016864673.1:p.Arg2979His | |
| XM_017009185.1:c.4025G>A | XP_016864674.1:p.Arg1342His | |
| XM_017009186.1:c.3578G>A | XP_016864675.1:p.Arg1193His | |
| XM_017009188.1:c.2915G>A | XP_016864677.1:p.Arg972His | |
| XM_024454388.1:c.7841G>A | XP_024310156.1:p.Arg2614His | |
| XM_024454389.1:c.7430G>A | XP_024310157.1:p.Arg2477His | |
| XR_001742034.1:n.8946-3597G>A | ||
| XR_001742035.1:n.8946-3597G>A | ||
| NM_001369.3:c.8828G>A MANE Select | NP_001360.1:p.Arg2943His |