Linked Data
ClinVar Variation Id:
2972281
ClinVar RCV Id:
RCV003835407
MyVariant Identifiers:
chr5:g.13708310G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708201G>A , CM000667.2:g.13708201G>A | GRCh38 |
| NC_000005.9:g.13708310G>A , CM000667.1:g.13708310G>A | GRCh37 |
| NC_000005.8:g.13761310G>A | NCBI36 |
| NG_013081.1:g.241280C>T | |
| NG_013081.2:g.241280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.593C>T | ||
| ENST00000265104.5:c.13260C>T MANE Select | ENSP00000265104.4:p.Gly4420= | |
| ENST00000681290.1:c.13215C>T | ENSP00000505288.1:p.Gly4405= | |
| ENST00000265104.4:c.13260C>T | ENSP00000265104.4:p.Gly4420= | |
| NM_001369.2:c.13260C>T | NP_001360.1:p.Gly4420= | |
| XM_005248262.2:c.13215C>T | XP_005248319.1:p.Gly4405= | |
| XM_005248262.3:c.13368C>T | XP_005248319.2:p.Gly4456= | |
| XM_017009177.1:c.12948C>T | XP_016864666.1:p.Gly4316= | |
| XM_017009178.1:c.12273C>T | XP_016864667.1:p.Gly4091= | |
| XM_017009179.2:c.12273C>T | XP_016864668.1:p.Gly4091= | |
| XM_017009185.1:c.8457C>T | XP_016864674.1:p.Gly2819= | |
| XM_017009186.1:c.8010C>T | XP_016864675.1:p.Gly2670= | |
| XM_017009188.1:c.7347C>T | XP_016864677.1:p.Gly2449= | |
| XM_024454388.1:c.12273C>T | XP_024310156.1:p.Gly4091= | |
| XM_024454389.1:c.11862C>T | XP_024310157.1:p.Gly3954= | |
| NM_001369.3:c.13260C>T MANE Select | NP_001360.1:p.Gly4420= |