Linked Data
ClinVar Variation Id:
2031190
ClinVar RCV Id:
RCV002867025
COSMIC:
COSM1061396
MyVariant Identifiers:
chr5:g.13781039T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13780930T>C , CM000667.2:g.13780930T>C | GRCh38 |
| NC_000005.9:g.13781039T>C , CM000667.1:g.13781039T>C | GRCh37 |
| NC_000005.8:g.13834039T>C | NCBI36 |
| NG_013081.1:g.168551A>G | |
| NG_013081.2:g.168551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8850A>G MANE Select | ENSP00000265104.4:p.Gly2950= | |
| ENST00000681290.1:c.8805A>G | ENSP00000505288.1:p.Gly2935= | |
| ENST00000265104.4:c.8850A>G | ENSP00000265104.4:p.Gly2950= | |
| NM_001369.2:c.8850A>G | NP_001360.1:p.Gly2950= | |
| XM_005248262.2:c.8805A>G | XP_005248319.1:p.Gly2935= | |
| XM_011513990.1:c.8850A>G | XP_011512292.1:p.Gly2950= | |
| XR_925598.1:n.9028-3575A>G | ||
| XM_005248262.3:c.8958A>G | XP_005248319.2:p.Gly2986= | |
| XM_017009177.1:c.8958A>G | XP_016864666.1:p.Gly2986= | |
| XM_017009178.1:c.7863A>G | XP_016864667.1:p.Gly2621= | |
| XM_017009179.2:c.7863A>G | XP_016864668.1:p.Gly2621= | |
| XM_017009180.1:c.8958A>G | XP_016864669.1:p.Gly2986= | |
| XM_017009181.1:c.8958A>G | XP_016864670.1:p.Gly2986= | |
| XM_017009182.1:c.8958A>G | XP_016864671.1:p.Gly2986= | |
| XM_017009183.1:c.8958A>G | XP_016864672.1:p.Gly2986= | |
| XM_017009184.1:c.8958A>G | XP_016864673.1:p.Gly2986= | |
| XM_017009185.1:c.4047A>G | XP_016864674.1:p.Gly1349= | |
| XM_017009186.1:c.3600A>G | XP_016864675.1:p.Gly1200= | |
| XM_017009188.1:c.2937A>G | XP_016864677.1:p.Gly979= | |
| XM_024454388.1:c.7863A>G | XP_024310156.1:p.Gly2621= | |
| XM_024454389.1:c.7452A>G | XP_024310157.1:p.Gly2484= | |
| XR_001742034.1:n.8946-3575A>G | ||
| XR_001742035.1:n.8946-3575A>G | ||
| NM_001369.3:c.8850A>G MANE Select | NP_001360.1:p.Gly2950= |