Linked Data
ClinVar Variation Id:
2785550
ClinVar RCV Id:
RCV003648182
MyVariant Identifiers:
chr5:g.13708304G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708195G>A , CM000667.2:g.13708195G>A | GRCh38 |
| NC_000005.9:g.13708304G>A , CM000667.1:g.13708304G>A | GRCh37 |
| NC_000005.8:g.13761304G>A | NCBI36 |
| NG_013081.1:g.241286C>T | |
| NG_013081.2:g.241286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.599C>T | ||
| ENST00000265104.5:c.13266C>T MANE Select | ENSP00000265104.4:p.Ile4422= | |
| ENST00000681290.1:c.13221C>T | ENSP00000505288.1:p.Ile4407= | |
| ENST00000265104.4:c.13266C>T | ENSP00000265104.4:p.Ile4422= | |
| NM_001369.2:c.13266C>T | NP_001360.1:p.Ile4422= | |
| XM_005248262.2:c.13221C>T | XP_005248319.1:p.Ile4407= | |
| XM_005248262.3:c.13374C>T | XP_005248319.2:p.Ile4458= | |
| XM_017009177.1:c.12954C>T | XP_016864666.1:p.Ile4318= | |
| XM_017009178.1:c.12279C>T | XP_016864667.1:p.Ile4093= | |
| XM_017009179.2:c.12279C>T | XP_016864668.1:p.Ile4093= | |
| XM_017009185.1:c.8463C>T | XP_016864674.1:p.Ile2821= | |
| XM_017009186.1:c.8016C>T | XP_016864675.1:p.Ile2672= | |
| XM_017009188.1:c.7353C>T | XP_016864677.1:p.Ile2451= | |
| XM_024454388.1:c.12279C>T | XP_024310156.1:p.Ile4093= | |
| XM_024454389.1:c.11868C>T | XP_024310157.1:p.Ile3956= | |
| NM_001369.3:c.13266C>T MANE Select | NP_001360.1:p.Ile4422= |