Linked Data
ClinVar Variation Id:
351058
dbSNP Id:
rs748304927
ExAC:
5:13794132 A / C
gnomAD v2:
5-13794132-A-C
gnomAD v4:
5-13794023-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13794023A>C , CM000667.2:g.13794023A>C | GRCh38 |
| NC_000005.9:g.13794132A>C , CM000667.1:g.13794132A>C | GRCh37 |
| NC_000005.8:g.13847132A>C | NCBI36 |
| NG_013081.1:g.155458T>G | |
| NG_013081.2:g.155458T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7923T>G MANE Select | ENSP00000265104.4:p.Gly2641= | |
| ENST00000681290.1:c.7878T>G | ENSP00000505288.1:p.Gly2626= | |
| ENST00000265104.4:c.7923T>G | ENSP00000265104.4:p.Gly2641= | |
| NM_001369.2:c.7923T>G | NP_001360.1:p.Gly2641= | |
| XM_005248262.2:c.7878T>G | XP_005248319.1:p.Gly2626= | |
| XM_011513990.1:c.7923T>G | XP_011512292.1:p.Gly2641= | |
| XR_925598.1:n.8130T>G | ||
| XM_005248262.3:c.8031T>G | XP_005248319.2:p.Gly2677= | |
| XM_017009177.1:c.8031T>G | XP_016864666.1:p.Gly2677= | |
| XM_017009178.1:c.6936T>G | XP_016864667.1:p.Gly2312= | |
| XM_017009179.2:c.6936T>G | XP_016864668.1:p.Gly2312= | |
| XM_017009180.1:c.8031T>G | XP_016864669.1:p.Gly2677= | |
| XM_017009181.1:c.8031T>G | XP_016864670.1:p.Gly2677= | |
| XM_017009182.1:c.8031T>G | XP_016864671.1:p.Gly2677= | |
| XM_017009183.1:c.8031T>G | XP_016864672.1:p.Gly2677= | |
| XM_017009184.1:c.8031T>G | XP_016864673.1:p.Gly2677= | |
| XM_017009185.1:c.3120T>G | XP_016864674.1:p.Gly1040= | |
| XM_017009186.1:c.2673T>G | XP_016864675.1:p.Gly891= | |
| XM_017009187.1:c.*26T>G | XP_016864676.1:n.*26T>G | |
| XM_017009188.1:c.2010T>G | XP_016864677.1:p.Gly670= | |
| XM_024454388.1:c.6936T>G | XP_024310156.1:p.Gly2312= | |
| XM_024454389.1:c.6525T>G | XP_024310157.1:p.Gly2175= | |
| XR_001742034.1:n.8048T>G | ||
| XR_001742035.1:n.8048T>G | ||
| NM_001369.3:c.7923T>G MANE Select | NP_001360.1:p.Gly2641= |