Linked Data
dbSNP Id:
rs1038405124
gnomAD v3:
5-13776689-A-T
gnomAD v4:
5-13776689-A-T
MyVariant Identifiers:
chr5:g.13776798A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776689A>T , CM000667.2:g.13776689A>T | GRCh38 |
| NC_000005.9:g.13776798A>T , CM000667.1:g.13776798A>T | GRCh37 |
| NC_000005.8:g.13829798A>T | NCBI36 |
| NG_013081.1:g.172792T>A | |
| NG_013081.2:g.172792T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9123T>A MANE Select | ENSP00000265104.4:p.Ala3041= | |
| ENST00000681290.1:c.9078T>A | ENSP00000505288.1:p.Ala3026= | |
| ENST00000265104.4:c.9123T>A | ENSP00000265104.4:p.Ala3041= | |
| NM_001369.2:c.9123T>A | NP_001360.1:p.Ala3041= | |
| XM_005248262.2:c.9078T>A | XP_005248319.1:p.Ala3026= | |
| XM_011513990.1:c.*10T>A | XP_011512292.1:n.*10T>A | |
| XR_925598.1:n.9194T>A | ||
| XM_005248262.3:c.9231T>A | XP_005248319.2:p.Ala3077= | |
| XM_017009177.1:c.9231T>A | XP_016864666.1:p.Ala3077= | |
| XM_017009178.1:c.8136T>A | XP_016864667.1:p.Ala2712= | |
| XM_017009179.2:c.8136T>A | XP_016864668.1:p.Ala2712= | |
| XM_017009180.1:c.9231T>A | XP_016864669.1:p.Ala3077= | |
| XM_017009181.1:c.9231T>A | XP_016864670.1:p.Ala3077= | |
| XM_017009182.1:c.9231T>A | XP_016864671.1:p.Ala3077= | |
| XM_017009183.1:c.9231T>A | XP_016864672.1:p.Ala3077= | |
| XM_017009184.1:c.*10T>A | XP_016864673.1:n.*10T>A | |
| XM_017009185.1:c.4320T>A | XP_016864674.1:p.Ala1440= | |
| XM_017009186.1:c.3873T>A | XP_016864675.1:p.Ala1291= | |
| XM_017009188.1:c.3210T>A | XP_016864677.1:p.Ala1070= | |
| XM_024454388.1:c.8136T>A | XP_024310156.1:p.Ala2712= | |
| XM_024454389.1:c.7725T>A | XP_024310157.1:p.Ala2575= | |
| XR_001742034.1:n.9117T>A | ||
| XR_001742035.1:n.9112T>A | ||
| NM_001369.3:c.9123T>A MANE Select | NP_001360.1:p.Ala3041= |