Linked Data
ClinVar Variation Id:
990998
ClinVar RCV Id:
RCV001279122
dbSNP Id:
rs1397044941
gnomAD v2:
5-13692203-T-C
gnomAD v4:
5-13692094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692094T>C , CM000667.2:g.13692094T>C | GRCh38 |
| NC_000005.9:g.13692203T>C , CM000667.1:g.13692203T>C | GRCh37 |
| NC_000005.8:g.13745203T>C | NCBI36 |
| NG_013081.1:g.257387A>G | |
| NG_013081.2:g.257387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1098A>G | ||
| ENST00000265104.5:c.13765A>G MANE Select | ENSP00000265104.4:p.Lys4589Glu | |
| ENST00000681290.1:c.13720A>G | ENSP00000505288.1:p.Lys4574Glu | |
| ENST00000265104.4:c.13765A>G | ENSP00000265104.4:p.Lys4589Glu | |
| NM_001369.2:c.13765A>G | NP_001360.1:p.Lys4589Glu | |
| XM_005248262.2:c.13720A>G | XP_005248319.1:p.Lys4574Glu | |
| XM_005248262.3:c.13873A>G | XP_005248319.2:p.Lys4625Glu | |
| XM_017009177.1:c.13453A>G | XP_016864666.1:p.Lys4485Glu | |
| XM_017009178.1:c.12778A>G | XP_016864667.1:p.Lys4260Glu | |
| XM_017009179.2:c.12778A>G | XP_016864668.1:p.Lys4260Glu | |
| XM_017009185.1:c.8962A>G | XP_016864674.1:p.Lys2988Glu | |
| XM_017009186.1:c.8515A>G | XP_016864675.1:p.Lys2839Glu | |
| XM_017009188.1:c.7852A>G | XP_016864677.1:p.Lys2618Glu | |
| XM_024454388.1:c.12778A>G | XP_024310156.1:p.Lys4260Glu | |
| XM_024454389.1:c.12367A>G | XP_024310157.1:p.Lys4123Glu | |
| NM_001369.3:c.13765A>G MANE Select | NP_001360.1:p.Lys4589Glu |