Linked Data
ClinVar Variation Id:
1085235
ClinVar RCV Id:
RCV001402559
dbSNP Id:
rs2151919068
gnomAD v4:
5-13870977-A-G
MyVariant Identifiers:
chr5:g.13871086A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13870977A>G , CM000667.2:g.13870977A>G | GRCh38 |
| NC_000005.9:g.13871086A>G , CM000667.1:g.13871086A>G | GRCh37 |
| NC_000005.8:g.13924086A>G | NCBI36 |
| NG_013081.1:g.78504T>C | |
| NG_013081.2:g.78504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3624T>C MANE Select | ENSP00000265104.4:p.Ala1208= | |
| ENST00000681290.1:c.3579T>C | ENSP00000505288.1:p.Ala1193= | |
| ENST00000265104.4:c.3624T>C | ENSP00000265104.4:p.Ala1208= | |
| NM_001369.2:c.3624T>C | NP_001360.1:p.Ala1208= | |
| XM_005248262.2:c.3579T>C | XP_005248319.1:p.Ala1193= | |
| XM_011513990.1:c.3624T>C | XP_011512292.1:p.Ala1208= | |
| XR_925598.1:n.3831T>C | ||
| XM_005248262.3:c.3732T>C | XP_005248319.2:p.Ala1244= | |
| XM_017009177.1:c.3732T>C | XP_016864666.1:p.Ala1244= | |
| XM_017009178.1:c.2637T>C | XP_016864667.1:p.Ala879= | |
| XM_017009179.2:c.2637T>C | XP_016864668.1:p.Ala879= | |
| XM_017009180.1:c.3732T>C | XP_016864669.1:p.Ala1244= | |
| XM_017009181.1:c.3732T>C | XP_016864670.1:p.Ala1244= | |
| XM_017009182.1:c.3732T>C | XP_016864671.1:p.Ala1244= | |
| XM_017009183.1:c.3732T>C | XP_016864672.1:p.Ala1244= | |
| XM_017009184.1:c.3732T>C | XP_016864673.1:p.Ala1244= | |
| XM_017009187.1:c.3732T>C | XP_016864676.1:p.Ala1244= | |
| XM_024454388.1:c.2637T>C | XP_024310156.1:p.Ala879= | |
| XM_024454389.1:c.2226T>C | XP_024310157.1:p.Ala742= | |
| XR_001742034.1:n.3749T>C | ||
| XR_001742035.1:n.3749T>C | ||
| NM_001369.3:c.3624T>C MANE Select | NP_001360.1:p.Ala1208= |