Linked Data
ClinVar Variation Id:
287116
dbSNP Id:
rs143518519
ExAC:
4:77100796 G / A
gnomAD v2:
4-77100796-G-A
gnomAD v3:
4-76179643-G-A
gnomAD v4:
4-76179643-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76179643G>A , CM000666.2:g.76179643G>A | GRCh38 |
| NC_000004.11:g.77100796G>A , CM000666.1:g.77100796G>A | GRCh37 |
| NC_000004.10:g.77319820G>A | NCBI36 |
| NG_012054.1:g.39240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.462C>T | ||
| ENST00000264896.8:c.486C>T MANE Select | ENSP00000264896.2:p.Ala162= | |
| ENST00000502908.2:n.1987C>T | ||
| ENST00000638295.1:c.12C>T | ENSP00000492288.1:p.Ala4= | |
| ENST00000638372.1:n.738C>T | ||
| ENST00000638603.1:c.486C>T | ENSP00000491728.1:p.Ala162= | |
| ENST00000638663.1:c.486C>T | ENSP00000491407.1:p.Ala162= | |
| ENST00000638680.1:n.2067C>T | ||
| ENST00000639145.1:c.477C>T | ENSP00000492831.1:p.Ala159= | |
| ENST00000639300.1:c.486C>T | ENSP00000492840.1:p.Ala162= | |
| ENST00000639324.1:n.585C>T | ||
| ENST00000639715.1:c.441C>T | ||
| ENST00000639738.1:c.276-13342C>T | ENSP00000491792.1:n.276-13342C>T | |
| ENST00000640076.1:n.67C>T | ||
| ENST00000640341.1:c.*126C>T | ENSP00000492714.1:n.*126C>T | |
| ENST00000640634.1:c.607C>T | ||
| ENST00000640640.1:c.486C>T | ENSP00000492246.1:p.Ala162= | |
| ENST00000640916.1:n.414C>T | ||
| ENST00000640957.1:c.486C>T | ENSP00000492004.1:p.Ala162= | |
| ENST00000264896.6:c.486C>T | ENSP00000264896.2:p.Ala162= | |
| ENST00000452464.6:c.276-3733C>T | ENSP00000399154.2:n.276-3733C>T | |
| NM_001204255.1:c.276-3733C>T | NP_001191184.1:n.276-3733C>T | |
| NM_005506.3:c.486C>T | NP_005497.1:p.Ala162= | |
| NM_005506.4:c.486C>T MANE Select | NP_005497.1:p.Ala162= | |
| NM_001204255.2:c.276-3733C>T | NP_001191184.1:n.276-3733C>T |