Linked Data
ClinVar Variation Id:
1082116
ClinVar RCV Id:
RCV001398291
dbSNP Id:
rs2126701155
MyVariant Identifiers:
chr5:g.13753474A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753365A>T , CM000667.2:g.13753365A>T | GRCh38 |
| NC_000005.9:g.13753474A>T , CM000667.1:g.13753474A>T | GRCh37 |
| NC_000005.8:g.13806474A>T | NCBI36 |
| NG_013081.1:g.196116T>A | |
| NG_013081.2:g.196116T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10740T>A MANE Select | ENSP00000265104.4:p.Gly3580= | |
| ENST00000681290.1:c.10695T>A | ENSP00000505288.1:p.Gly3565= | |
| ENST00000265104.4:c.10740T>A | ENSP00000265104.4:p.Gly3580= | |
| NM_001369.2:c.10740T>A | NP_001360.1:p.Gly3580= | |
| XM_005248262.2:c.10695T>A | XP_005248319.1:p.Gly3565= | |
| XM_005248262.3:c.10848T>A | XP_005248319.2:p.Gly3616= | |
| XM_017009177.1:c.10848T>A | XP_016864666.1:p.Gly3616= | |
| XM_017009178.1:c.9753T>A | XP_016864667.1:p.Gly3251= | |
| XM_017009179.2:c.9753T>A | XP_016864668.1:p.Gly3251= | |
| XM_017009180.1:c.10848T>A | XP_016864669.1:p.Gly3616= | |
| XM_017009181.1:c.10848T>A | XP_016864670.1:p.Gly3616= | |
| XM_017009182.1:c.10848T>A | XP_016864671.1:p.Gly3616= | |
| XM_017009185.1:c.5937T>A | XP_016864674.1:p.Gly1979= | |
| XM_017009186.1:c.5490T>A | XP_016864675.1:p.Gly1830= | |
| XM_017009188.1:c.4827T>A | XP_016864677.1:p.Gly1609= | |
| XM_024454388.1:c.9753T>A | XP_024310156.1:p.Gly3251= | |
| XM_024454389.1:c.9342T>A | XP_024310157.1:p.Gly3114= | |
| NM_001369.3:c.10740T>A MANE Select | NP_001360.1:p.Gly3580= |