Linked Data
ClinVar Variation Id:
2697929
ClinVar RCV Id:
RCV003536147
MyVariant Identifiers:
chr5:g.13776591T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776482T>A , CM000667.2:g.13776482T>A | GRCh38 |
| NC_000005.9:g.13776591T>A , CM000667.1:g.13776591T>A | GRCh37 |
| NC_000005.8:g.13829591T>A | NCBI36 |
| NG_013081.1:g.172999A>T | |
| NG_013081.2:g.172999A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9330A>T MANE Select | ENSP00000265104.4:p.Thr3110= | |
| ENST00000681290.1:c.9285A>T | ENSP00000505288.1:p.Thr3095= | |
| ENST00000265104.4:c.9330A>T | ENSP00000265104.4:p.Thr3110= | |
| NM_001369.2:c.9330A>T | NP_001360.1:p.Thr3110= | |
| XM_005248262.2:c.9285A>T | XP_005248319.1:p.Thr3095= | |
| XM_005248262.3:c.9438A>T | XP_005248319.2:p.Thr3146= | |
| XM_017009177.1:c.9438A>T | XP_016864666.1:p.Thr3146= | |
| XM_017009178.1:c.8343A>T | XP_016864667.1:p.Thr2781= | |
| XM_017009179.2:c.8343A>T | XP_016864668.1:p.Thr2781= | |
| XM_017009180.1:c.9438A>T | XP_016864669.1:p.Thr3146= | |
| XM_017009181.1:c.9438A>T | XP_016864670.1:p.Thr3146= | |
| XM_017009182.1:c.9438A>T | XP_016864671.1:p.Thr3146= | |
| XM_017009183.1:c.9438A>T | XP_016864672.1:p.Thr3146= | |
| XM_017009185.1:c.4527A>T | XP_016864674.1:p.Thr1509= | |
| XM_017009186.1:c.4080A>T | XP_016864675.1:p.Thr1360= | |
| XM_017009188.1:c.3417A>T | XP_016864677.1:p.Thr1139= | |
| XM_024454388.1:c.8343A>T | XP_024310156.1:p.Thr2781= | |
| XM_024454389.1:c.7932A>T | XP_024310157.1:p.Thr2644= | |
| NM_001369.3:c.9330A>T MANE Select | NP_001360.1:p.Thr3110= |