Linked Data
dbSNP Id:
rs759563638
ExAC:
5:13692238 C / T
gnomAD v2:
5-13692238-C-T
gnomAD v3:
5-13692129-C-T
gnomAD v4:
5-13692129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692129C>T , CM000667.2:g.13692129C>T | GRCh38 |
| NC_000005.9:g.13692238C>T , CM000667.1:g.13692238C>T | GRCh37 |
| NC_000005.8:g.13745238C>T | NCBI36 |
| NG_013081.1:g.257352G>A | |
| NG_013081.2:g.257352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1063G>A | ||
| ENST00000265104.5:c.13730G>A MANE Select | ENSP00000265104.4:p.Arg4577Gln | |
| ENST00000681290.1:c.13685G>A | ENSP00000505288.1:p.Arg4562Gln | |
| ENST00000265104.4:c.13730G>A | ENSP00000265104.4:p.Arg4577Gln | |
| NM_001369.2:c.13730G>A | NP_001360.1:p.Arg4577Gln | |
| XM_005248262.2:c.13685G>A | XP_005248319.1:p.Arg4562Gln | |
| XM_005248262.3:c.13838G>A | XP_005248319.2:p.Arg4613Gln | |
| XM_017009177.1:c.13418G>A | XP_016864666.1:p.Arg4473Gln | |
| XM_017009178.1:c.12743G>A | XP_016864667.1:p.Arg4248Gln | |
| XM_017009179.2:c.12743G>A | XP_016864668.1:p.Arg4248Gln | |
| XM_017009185.1:c.8927G>A | XP_016864674.1:p.Arg2976Gln | |
| XM_017009186.1:c.8480G>A | XP_016864675.1:p.Arg2827Gln | |
| XM_017009188.1:c.7817G>A | XP_016864677.1:p.Arg2606Gln | |
| XM_024454388.1:c.12743G>A | XP_024310156.1:p.Arg4248Gln | |
| XM_024454389.1:c.12332G>A | XP_024310157.1:p.Arg4111Gln | |
| NM_001369.3:c.13730G>A MANE Select | NP_001360.1:p.Arg4577Gln |