Linked Data
ClinVar Variation Id:
1092766
ClinVar RCV Id:
RCV001412736
dbSNP Id:
rs1744451695
gnomAD v4:
5-13717420-C-T
MyVariant Identifiers:
chr5:g.13717529C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717420C>T , CM000667.2:g.13717420C>T | GRCh38 |
| NC_000005.9:g.13717529C>T , CM000667.1:g.13717529C>T | GRCh37 |
| NC_000005.8:g.13770529C>T | NCBI36 |
| NG_013081.1:g.232061G>A | |
| NG_013081.2:g.232061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12600G>A MANE Select | ENSP00000265104.4:p.Lys4200= | |
| ENST00000681290.1:c.12555G>A | ENSP00000505288.1:p.Lys4185= | |
| ENST00000265104.4:c.12600G>A | ENSP00000265104.4:p.Lys4200= | |
| NM_001369.2:c.12600G>A | NP_001360.1:p.Lys4200= | |
| XM_005248262.2:c.12555G>A | XP_005248319.1:p.Lys4185= | |
| XM_005248262.3:c.12708G>A | XP_005248319.2:p.Lys4236= | |
| XM_017009177.1:c.12708G>A | XP_016864666.1:p.Lys4236= | |
| XM_017009178.1:c.11613G>A | XP_016864667.1:p.Lys3871= | |
| XM_017009179.2:c.11613G>A | XP_016864668.1:p.Lys3871= | |
| XM_017009180.1:c.12708G>A | XP_016864669.1:p.Lys4236= | |
| XM_017009185.1:c.7797G>A | XP_016864674.1:p.Lys2599= | |
| XM_017009186.1:c.7350G>A | XP_016864675.1:p.Lys2450= | |
| XM_017009188.1:c.6687G>A | XP_016864677.1:p.Lys2229= | |
| XM_024454388.1:c.11613G>A | XP_024310156.1:p.Lys3871= | |
| XM_024454389.1:c.11202G>A | XP_024310157.1:p.Lys3734= | |
| NM_001369.3:c.12600G>A MANE Select | NP_001360.1:p.Lys4200= |