Linked Data
ClinVar Variation Id:
350994
dbSNP Id:
rs752010216
ExAC:
5:13700800 T / C
gnomAD v2:
5-13700800-T-C
gnomAD v3:
5-13700691-T-C
gnomAD v4:
5-13700691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13700691T>C , CM000667.2:g.13700691T>C | GRCh38 |
| NC_000005.9:g.13700800T>C , CM000667.1:g.13700800T>C | GRCh37 |
| NC_000005.8:g.13753800T>C | NCBI36 |
| NG_013081.1:g.248790A>G | |
| NG_013081.2:g.248790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1005A>G | ||
| ENST00000265104.5:c.13672A>G MANE Select | ENSP00000265104.4:p.Lys4558Glu | |
| ENST00000681290.1:c.13627A>G | ENSP00000505288.1:p.Lys4543Glu | |
| ENST00000265104.4:c.13672A>G | ENSP00000265104.4:p.Lys4558Glu | |
| NM_001369.2:c.13672A>G | NP_001360.1:p.Lys4558Glu | |
| XM_005248262.2:c.13627A>G | XP_005248319.1:p.Lys4543Glu | |
| XM_005248262.3:c.13780A>G | XP_005248319.2:p.Lys4594Glu | |
| XM_017009177.1:c.13360A>G | XP_016864666.1:p.Lys4454Glu | |
| XM_017009178.1:c.12685A>G | XP_016864667.1:p.Lys4229Glu | |
| XM_017009179.2:c.12685A>G | XP_016864668.1:p.Lys4229Glu | |
| XM_017009185.1:c.8869A>G | XP_016864674.1:p.Lys2957Glu | |
| XM_017009186.1:c.8422A>G | XP_016864675.1:p.Lys2808Glu | |
| XM_017009188.1:c.7759A>G | XP_016864677.1:p.Lys2587Glu | |
| XM_024454388.1:c.12685A>G | XP_024310156.1:p.Lys4229Glu | |
| XM_024454389.1:c.12274A>G | XP_024310157.1:p.Lys4092Glu | |
| NM_001369.3:c.13672A>G MANE Select | NP_001360.1:p.Lys4558Glu |