Linked Data
ClinVar Variation Id:
1992252
ClinVar RCV Id:
RCV002776523
dbSNP Id:
rs1752924645
gnomAD v4:
5-13769092-G-C
MyVariant Identifiers:
chr5:g.13769201G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769092G>C , CM000667.2:g.13769092G>C | GRCh38 |
| NC_000005.9:g.13769201G>C , CM000667.1:g.13769201G>C | GRCh37 |
| NC_000005.8:g.13822201G>C | NCBI36 |
| NG_013081.1:g.180389C>G | |
| NG_013081.2:g.180389C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9765C>G MANE Select | ENSP00000265104.4:p.Val3255= | |
| ENST00000681290.1:c.9720C>G | ENSP00000505288.1:p.Val3240= | |
| ENST00000265104.4:c.9765C>G | ENSP00000265104.4:p.Val3255= | |
| ENST00000504001.3:n.477C>G | ||
| NM_001369.2:c.9765C>G | NP_001360.1:p.Val3255= | |
| XM_005248262.2:c.9720C>G | XP_005248319.1:p.Val3240= | |
| XM_005248262.3:c.9873C>G | XP_005248319.2:p.Val3291= | |
| XM_017009177.1:c.9873C>G | XP_016864666.1:p.Val3291= | |
| XM_017009178.1:c.8778C>G | XP_016864667.1:p.Val2926= | |
| XM_017009179.2:c.8778C>G | XP_016864668.1:p.Val2926= | |
| XM_017009180.1:c.9873C>G | XP_016864669.1:p.Val3291= | |
| XM_017009181.1:c.9873C>G | XP_016864670.1:p.Val3291= | |
| XM_017009182.1:c.9873C>G | XP_016864671.1:p.Val3291= | |
| XM_017009185.1:c.4962C>G | XP_016864674.1:p.Val1654= | |
| XM_017009186.1:c.4515C>G | XP_016864675.1:p.Val1505= | |
| XM_017009188.1:c.3852C>G | XP_016864677.1:p.Val1284= | |
| XM_024454388.1:c.8778C>G | XP_024310156.1:p.Val2926= | |
| XM_024454389.1:c.8367C>G | XP_024310157.1:p.Val2789= | |
| NM_001369.3:c.9765C>G MANE Select | NP_001360.1:p.Val3255= |