Linked Data
ClinVar Variation Id:
2856750
ClinVar RCV Id:
RCV003653699
MyVariant Identifiers:
chr5:g.13752333A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752224A>C , CM000667.2:g.13752224A>C | GRCh38 |
| NC_000005.9:g.13752333A>C , CM000667.1:g.13752333A>C | GRCh37 |
| NC_000005.8:g.13805333A>C | NCBI36 |
| NG_013081.1:g.197257T>G | |
| NG_013081.2:g.197257T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10938T>G MANE Select | ENSP00000265104.4:p.Pro3646= | |
| ENST00000681290.1:c.10893T>G | ENSP00000505288.1:p.Pro3631= | |
| ENST00000265104.4:c.10938T>G | ENSP00000265104.4:p.Pro3646= | |
| NM_001369.2:c.10938T>G | NP_001360.1:p.Pro3646= | |
| XM_005248262.2:c.10893T>G | XP_005248319.1:p.Pro3631= | |
| XM_005248262.3:c.11046T>G | XP_005248319.2:p.Pro3682= | |
| XM_017009177.1:c.11046T>G | XP_016864666.1:p.Pro3682= | |
| XM_017009178.1:c.9951T>G | XP_016864667.1:p.Pro3317= | |
| XM_017009179.2:c.9951T>G | XP_016864668.1:p.Pro3317= | |
| XM_017009180.1:c.11046T>G | XP_016864669.1:p.Pro3682= | |
| XM_017009181.1:c.11046T>G | XP_016864670.1:p.Pro3682= | |
| XM_017009182.1:c.11046T>G | XP_016864671.1:p.Pro3682= | |
| XM_017009185.1:c.6135T>G | XP_016864674.1:p.Pro2045= | |
| XM_017009186.1:c.5688T>G | XP_016864675.1:p.Pro1896= | |
| XM_017009188.1:c.5025T>G | XP_016864677.1:p.Pro1675= | |
| XM_024454388.1:c.9951T>G | XP_024310156.1:p.Pro3317= | |
| XM_024454389.1:c.9540T>G | XP_024310157.1:p.Pro3180= | |
| NM_001369.3:c.10938T>G MANE Select | NP_001360.1:p.Pro3646= |