Linked Data
ClinVar Variation Id:
525386
ClinVar RCV Id:
RCV000629442
dbSNP Id:
rs1304504006
gnomAD v2:
5-13753599-G-A
gnomAD v3:
5-13753490-G-A
gnomAD v4:
5-13753490-G-A
COSMIC:
COSM1695413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753490G>A , CM000667.2:g.13753490G>A | GRCh38 |
| NC_000005.9:g.13753599G>A , CM000667.1:g.13753599G>A | GRCh37 |
| NC_000005.8:g.13806599G>A | NCBI36 |
| NG_013081.1:g.195991C>T | |
| NG_013081.2:g.195991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10615C>T MANE Select | ENSP00000265104.4:p.Arg3539Cys | |
| ENST00000681290.1:c.10570C>T | ENSP00000505288.1:p.Arg3524Cys | |
| ENST00000265104.4:c.10615C>T | ENSP00000265104.4:p.Arg3539Cys | |
| NM_001369.2:c.10615C>T | NP_001360.1:p.Arg3539Cys | |
| XM_005248262.2:c.10570C>T | XP_005248319.1:p.Arg3524Cys | |
| XM_005248262.3:c.10723C>T | XP_005248319.2:p.Arg3575Cys | |
| XM_017009177.1:c.10723C>T | XP_016864666.1:p.Arg3575Cys | |
| XM_017009178.1:c.9628C>T | XP_016864667.1:p.Arg3210Cys | |
| XM_017009179.2:c.9628C>T | XP_016864668.1:p.Arg3210Cys | |
| XM_017009180.1:c.10723C>T | XP_016864669.1:p.Arg3575Cys | |
| XM_017009181.1:c.10723C>T | XP_016864670.1:p.Arg3575Cys | |
| XM_017009182.1:c.10723C>T | XP_016864671.1:p.Arg3575Cys | |
| XM_017009185.1:c.5812C>T | XP_016864674.1:p.Arg1938Cys | |
| XM_017009186.1:c.5365C>T | XP_016864675.1:p.Arg1789Cys | |
| XM_017009188.1:c.4702C>T | XP_016864677.1:p.Arg1568Cys | |
| XM_024454388.1:c.9628C>T | XP_024310156.1:p.Arg3210Cys | |
| XM_024454389.1:c.9217C>T | XP_024310157.1:p.Arg3073Cys | |
| NM_001369.3:c.10615C>T MANE Select | NP_001360.1:p.Arg3539Cys |