Linked Data
ClinVar Variation Id:
1149276
ClinVar RCV Id:
RCV001489450
dbSNP Id:
rs749307247
ExAC:
8:87588095 A / G
gnomAD v2:
8-87588095-A-G
gnomAD v3:
8-86575867-A-G
gnomAD v4:
8-86575867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575867A>G , CM000670.2:g.86575867A>G | GRCh38 |
| NC_000008.10:g.87588095A>G , CM000670.1:g.87588095A>G | GRCh37 |
| NC_000008.9:g.87657211A>G | NCBI36 |
| NG_016980.1:g.172809T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2367T>C MANE Select | ENSP00000316605.5:p.Ala789= | |
| ENST00000681546.1:n.2187T>C | ||
| ENST00000681746.1:c.*778T>C | ENSP00000505959.1:n.*778T>C | |
| ENST00000320005.5:c.2367T>C | ENSP00000316605.5:p.Ala789= | |
| ENST00000517327.5:c.276+2822T>C | ENSP00000428329.1:n.276+2822T>C | |
| NM_019098.4:c.2367T>C | NP_061971.3:p.Ala789= | |
| XM_011517138.1:c.1953T>C | XP_011515440.1:p.Ala651= | |
| XM_011517138.2:c.1953T>C | XP_011515440.1:p.Ala651= | |
| NM_019098.5:c.2367T>C MANE Select | NP_061971.3:p.Ala789= |