Linked Data
ClinVar Variation Id:
1134427
ClinVar RCV Id:
RCV001469354
dbSNP Id:
rs2126701753
gnomAD v4:
5-13753461-C-T
COSMIC:
COSM3608912
MyVariant Identifiers:
chr5:g.13753570C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753461C>T , CM000667.2:g.13753461C>T | GRCh38 |
| NC_000005.9:g.13753570C>T , CM000667.1:g.13753570C>T | GRCh37 |
| NC_000005.8:g.13806570C>T | NCBI36 |
| NG_013081.1:g.196020G>A | |
| NG_013081.2:g.196020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10644G>A MANE Select | ENSP00000265104.4:p.Lys3548= | |
| ENST00000681290.1:c.10599G>A | ENSP00000505288.1:p.Lys3533= | |
| ENST00000265104.4:c.10644G>A | ENSP00000265104.4:p.Lys3548= | |
| NM_001369.2:c.10644G>A | NP_001360.1:p.Lys3548= | |
| XM_005248262.2:c.10599G>A | XP_005248319.1:p.Lys3533= | |
| XM_005248262.3:c.10752G>A | XP_005248319.2:p.Lys3584= | |
| XM_017009177.1:c.10752G>A | XP_016864666.1:p.Lys3584= | |
| XM_017009178.1:c.9657G>A | XP_016864667.1:p.Lys3219= | |
| XM_017009179.2:c.9657G>A | XP_016864668.1:p.Lys3219= | |
| XM_017009180.1:c.10752G>A | XP_016864669.1:p.Lys3584= | |
| XM_017009181.1:c.10752G>A | XP_016864670.1:p.Lys3584= | |
| XM_017009182.1:c.10752G>A | XP_016864671.1:p.Lys3584= | |
| XM_017009185.1:c.5841G>A | XP_016864674.1:p.Lys1947= | |
| XM_017009186.1:c.5394G>A | XP_016864675.1:p.Lys1798= | |
| XM_017009188.1:c.4731G>A | XP_016864677.1:p.Lys1577= | |
| XM_024454388.1:c.9657G>A | XP_024310156.1:p.Lys3219= | |
| XM_024454389.1:c.9246G>A | XP_024310157.1:p.Lys3082= | |
| NM_001369.3:c.10644G>A MANE Select | NP_001360.1:p.Lys3548= |