Linked Data
ClinVar Variation Id:
3004242
ClinVar RCV Id:
RCV003865881
dbSNP Id:
rs1740751970
MyVariant Identifiers:
chr5:g.13692099G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13691990G>C , CM000667.2:g.13691990G>C | GRCh38 |
| NC_000005.9:g.13692099G>C , CM000667.1:g.13692099G>C | GRCh37 |
| NC_000005.8:g.13745099G>C | NCBI36 |
| NG_013081.1:g.257491C>G | |
| NG_013081.2:g.257491C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1202C>G | ||
| ENST00000265104.5:c.13869C>G MANE Select | ENSP00000265104.4:p.Val4623= | |
| ENST00000681290.1:c.13824C>G | ENSP00000505288.1:p.Val4608= | |
| ENST00000265104.4:c.13869C>G | ENSP00000265104.4:p.Val4623= | |
| NM_001369.2:c.13869C>G | NP_001360.1:p.Val4623= | |
| XM_005248262.2:c.13824C>G | XP_005248319.1:p.Val4608= | |
| XM_005248262.3:c.13977C>G | XP_005248319.2:p.Val4659= | |
| XM_017009177.1:c.13557C>G | XP_016864666.1:p.Val4519= | |
| XM_017009178.1:c.12882C>G | XP_016864667.1:p.Val4294= | |
| XM_017009179.2:c.12882C>G | XP_016864668.1:p.Val4294= | |
| XM_017009185.1:c.9066C>G | XP_016864674.1:p.Val3022= | |
| XM_017009186.1:c.8619C>G | XP_016864675.1:p.Val2873= | |
| XM_017009188.1:c.7956C>G | XP_016864677.1:p.Val2652= | |
| XM_024454388.1:c.12882C>G | XP_024310156.1:p.Val4294= | |
| XM_024454389.1:c.12471C>G | XP_024310157.1:p.Val4157= | |
| NM_001369.3:c.13869C>G MANE Select | NP_001360.1:p.Val4623= |