Linked Data
ClinVar Variation Id:
525349
dbSNP Id:
rs149187750
ExAC:
5:13771002 T / G
gnomAD v2:
5-13771002-T-G
gnomAD v3:
5-13770893-T-G
gnomAD v4:
5-13770893-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770893T>G , CM000667.2:g.13770893T>G | GRCh38 |
| NC_000005.9:g.13771002T>G , CM000667.1:g.13771002T>G | GRCh37 |
| NC_000005.8:g.13824002T>G | NCBI36 |
| NG_013081.1:g.178588A>C | |
| NG_013081.2:g.178588A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9461A>C MANE Select | ENSP00000265104.4:p.Asp3154Ala | |
| ENST00000681290.1:c.9416A>C | ENSP00000505288.1:p.Asp3139Ala | |
| ENST00000265104.4:c.9461A>C | ENSP00000265104.4:p.Asp3154Ala | |
| ENST00000504001.3:n.173A>C | ||
| NM_001369.2:c.9461A>C | NP_001360.1:p.Asp3154Ala | |
| XM_005248262.2:c.9416A>C | XP_005248319.1:p.Asp3139Ala | |
| XM_005248262.3:c.9569A>C | XP_005248319.2:p.Asp3190Ala | |
| XM_017009177.1:c.9569A>C | XP_016864666.1:p.Asp3190Ala | |
| XM_017009178.1:c.8474A>C | XP_016864667.1:p.Asp2825Ala | |
| XM_017009179.2:c.8474A>C | XP_016864668.1:p.Asp2825Ala | |
| XM_017009180.1:c.9569A>C | XP_016864669.1:p.Asp3190Ala | |
| XM_017009181.1:c.9569A>C | XP_016864670.1:p.Asp3190Ala | |
| XM_017009182.1:c.9569A>C | XP_016864671.1:p.Asp3190Ala | |
| XM_017009183.1:c.9569A>C | XP_016864672.1:p.Asp3190Ala | |
| XM_017009185.1:c.4658A>C | XP_016864674.1:p.Asp1553Ala | |
| XM_017009186.1:c.4211A>C | XP_016864675.1:p.Asp1404Ala | |
| XM_017009188.1:c.3548A>C | XP_016864677.1:p.Asp1183Ala | |
| XM_024454388.1:c.8474A>C | XP_024310156.1:p.Asp2825Ala | |
| XM_024454389.1:c.8063A>C | XP_024310157.1:p.Asp2688Ala | |
| NM_001369.3:c.9461A>C MANE Select | NP_001360.1:p.Asp3154Ala |