Linked Data
ClinVar Variation Id:
704047
dbSNP Id:
rs62519577
ExAC:
8:133187778 G / A
gnomAD v2:
8-133187778-G-A
gnomAD v3:
8-132175531-G-A
gnomAD v4:
8-132175531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175531G>A , CM000670.2:g.132175531G>A | GRCh38 |
| NC_000008.10:g.133187778G>A , CM000670.1:g.133187778G>A | GRCh37 |
| NC_000008.9:g.133256960G>A | NCBI36 |
| NG_008854.2:g.310227C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.855C>T MANE Select | ENSP00000373648.3:p.Asp285= | |
| ENST00000521134.6:c.495C>T | ENSP00000429799.1:p.Asp165= | |
| ENST00000638588.1:c.528C>T | ENSP00000491940.1:p.Asp176= | |
| ENST00000639358.1:c.505C>T | ||
| ENST00000639496.1:c.528C>T | ENSP00000491165.1:p.Asp176= | |
| ENST00000388996.8:c.855C>T | ENSP00000373648.3:p.Asp285= | |
| ENST00000519445.5:c.855C>T | ENSP00000428790.1:p.Asp285= | |
| ENST00000519589.1:n.633C>T | ||
| ENST00000521134.5:c.495C>T | ENSP00000429799.1:p.Asp165= | |
| ENST00000621976.1:c.492C>T | ENSP00000482510.1:p.Asp164= | |
| NM_001204824.1:c.495C>T | NP_001191753.1:p.Asp165= | |
| NM_004519.3:c.855C>T | NP_004510.1:p.Asp285= | |
| XM_005250914.2:c.-302C>T | XP_005250971.1:n.-302C>T | |
| XM_006716555.2:c.147C>T | XP_006716618.1:p.Asp49= | |
| XM_011517026.1:c.495C>T | XP_011515328.1:p.Asp165= | |
| XM_005250914.3:c.-302C>T | XP_005250971.1:n.-302C>T | |
| XM_006716555.3:c.147C>T | XP_006716618.1:p.Asp49= | |
| XM_011517026.2:c.495C>T | XP_011515328.1:p.Asp165= | |
| XM_017013400.1:c.633C>T | XP_016868889.1:p.Asp211= | |
| NM_004519.4:c.855C>T MANE Select | NP_004510.1:p.Asp285= | |
| NM_001204824.2:c.495C>T | NP_001191753.1:p.Asp165= |