Linked Data
ClinVar Variation Id:
3022327
ClinVar RCV Id:
RCV003881406
MyVariant Identifiers:
chr5:g.13701414T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701305T>A , CM000667.2:g.13701305T>A | GRCh38 |
| NC_000005.9:g.13701414T>A , CM000667.1:g.13701414T>A | GRCh37 |
| NC_000005.8:g.13754414T>A | NCBI36 |
| NG_013081.1:g.248176A>T | |
| NG_013081.2:g.248176A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.803A>T | ||
| ENST00000265104.5:c.13470A>T MANE Select | ENSP00000265104.4:p.Gly4490= | |
| ENST00000681290.1:c.13425A>T | ENSP00000505288.1:p.Gly4475= | |
| ENST00000265104.4:c.13470A>T | ENSP00000265104.4:p.Gly4490= | |
| NM_001369.2:c.13470A>T | NP_001360.1:p.Gly4490= | |
| XM_005248262.2:c.13425A>T | XP_005248319.1:p.Gly4475= | |
| XM_005248262.3:c.13578A>T | XP_005248319.2:p.Gly4526= | |
| XM_017009177.1:c.13158A>T | XP_016864666.1:p.Gly4386= | |
| XM_017009178.1:c.12483A>T | XP_016864667.1:p.Gly4161= | |
| XM_017009179.2:c.12483A>T | XP_016864668.1:p.Gly4161= | |
| XM_017009185.1:c.8667A>T | XP_016864674.1:p.Gly2889= | |
| XM_017009186.1:c.8220A>T | XP_016864675.1:p.Gly2740= | |
| XM_017009188.1:c.7557A>T | XP_016864677.1:p.Gly2519= | |
| XM_024454388.1:c.12483A>T | XP_024310156.1:p.Gly4161= | |
| XM_024454389.1:c.12072A>T | XP_024310157.1:p.Gly4024= | |
| NM_001369.3:c.13470A>T MANE Select | NP_001360.1:p.Gly4490= |