Linked Data
ClinVar Variation Id:
1101673
ClinVar RCV Id:
RCV001424684
dbSNP Id:
rs2126455593
MyVariant Identifiers:
chr5:g.13708316A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708207A>G , CM000667.2:g.13708207A>G | GRCh38 |
| NC_000005.9:g.13708316A>G , CM000667.1:g.13708316A>G | GRCh37 |
| NC_000005.8:g.13761316A>G | NCBI36 |
| NG_013081.1:g.241274T>C | |
| NG_013081.2:g.241274T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.587T>C | ||
| ENST00000265104.5:c.13254T>C MANE Select | ENSP00000265104.4:p.Ile4418= | |
| ENST00000681290.1:c.13209T>C | ENSP00000505288.1:p.Ile4403= | |
| ENST00000265104.4:c.13254T>C | ENSP00000265104.4:p.Ile4418= | |
| NM_001369.2:c.13254T>C | NP_001360.1:p.Ile4418= | |
| XM_005248262.2:c.13209T>C | XP_005248319.1:p.Ile4403= | |
| XM_005248262.3:c.13362T>C | XP_005248319.2:p.Ile4454= | |
| XM_017009177.1:c.12942T>C | XP_016864666.1:p.Ile4314= | |
| XM_017009178.1:c.12267T>C | XP_016864667.1:p.Ile4089= | |
| XM_017009179.2:c.12267T>C | XP_016864668.1:p.Ile4089= | |
| XM_017009185.1:c.8451T>C | XP_016864674.1:p.Ile2817= | |
| XM_017009186.1:c.8004T>C | XP_016864675.1:p.Ile2668= | |
| XM_017009188.1:c.7341T>C | XP_016864677.1:p.Ile2447= | |
| XM_024454388.1:c.12267T>C | XP_024310156.1:p.Ile4089= | |
| XM_024454389.1:c.11856T>C | XP_024310157.1:p.Ile3952= | |
| NM_001369.3:c.13254T>C MANE Select | NP_001360.1:p.Ile4418= |