Linked Data
ClinVar Variation Id:
719456
ClinVar RCV Id:
RCV000892605
dbSNP Id:
rs76776727
ExAC:
1:155629964 C / T
gnomAD v2:
1-155629964-C-T
gnomAD v3:
1-155660173-C-T
gnomAD v4:
1-155660173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155660173C>T , CM000663.2:g.155660173C>T | GRCh38 |
| NC_000001.10:g.155629964C>T , CM000663.1:g.155629964C>T | GRCh37 |
| NC_000001.9:g.153896588C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355499.9:c.1737G>A MANE Select | ENSP00000347686.4:p.Ala579= | |
| ENST00000295566.8:c.1875G>A | ENSP00000295566.4:p.Ala625= | |
| ENST00000311573.9:c.1644G>A | ENSP00000311138.5:p.Ala548= | |
| ENST00000347088.9:c.1737G>A | ENSP00000316079.6:p.Ala579= | |
| ENST00000354691.9:c.*1001G>A | ENSP00000346722.5:n.*1001G>A | |
| ENST00000355499.8:c.1737G>A | ENSP00000347686.4:p.Ala579= | |
| ENST00000359205.9:c.1704G>A | ENSP00000352134.5:p.Ala568= | |
| ENST00000361140.8:c.*1235G>A | ENSP00000354716.4:n.*1235G>A | |
| ENST00000361831.9:c.1704G>A | ENSP00000355298.5:p.Ala568= | |
| ENST00000368330.6:c.1737G>A | ENSP00000357314.2:p.Ala579= | |
| ENST00000368339.9:c.2151G>A | ENSP00000357323.5:p.Ala717= | |
| ENST00000368340.9:c.2091G>A | ENSP00000357324.5:p.Ala697= | |
| ENST00000404643.5:c.1677G>A | ENSP00000385390.1:p.Ala559= | |
| ENST00000407221.5:c.1644G>A | ENSP00000385791.1:p.Ala548= | |
| ENST00000436865.5:c.*1746G>A | ENSP00000390116.1:n.*1746G>A | |
| ENST00000442834.6:n.1781G>A | ||
| ENST00000500626.2:n.73G>A | ||
| NM_001198899.1:c.1704G>A | NP_001185828.1:p.Ala568= | |
| NM_001198900.1:c.1704G>A | NP_001185829.1:p.Ala568= | |
| NM_001198901.1:c.1737G>A | NP_001185830.1:p.Ala579= | |
| NM_001198902.1:c.1737G>A | NP_001185831.1:p.Ala579= | |
| NM_001198903.1:c.2151G>A | NP_001185832.1:p.Ala717= | |
| NM_001198904.1:c.2091G>A | NP_001185833.1:p.Ala697= | |
| NM_001198905.1:c.1677G>A | NP_001185834.1:p.Ala559= | |
| NM_001198906.1:c.*680G>A | NP_001185835.1:n.*680G>A | |
| NM_018253.3:c.1704G>A | NP_060723.2:p.Ala568= | |
| NM_139118.2:c.1875G>A | NP_620829.1:p.Ala625= | |
| NM_139119.2:c.1737G>A | NP_620830.1:p.Ala579= | |
| NM_139121.2:c.1539G>A | NP_620832.1:p.Ala513= | |
| XM_011509721.1:c.1935G>A | XP_011508023.1:p.Ala645= | |
| XM_011509722.1:c.1704G>A | XP_011508024.1:p.Ala568= | |
| NM_001198906.2:c.*680G>A | NP_001185835.1:n.*680G>A | |
| NM_001198899.2:c.1704G>A | NP_001185828.1:p.Ala568= | |
| NM_001198900.2:c.1704G>A | NP_001185829.1:p.Ala568= | |
| NM_001198901.2:c.1737G>A | NP_001185830.1:p.Ala579= | |
| NM_001198902.2:c.1737G>A | NP_001185831.1:p.Ala579= | |
| NM_001198905.2:c.1677G>A | NP_001185834.1:p.Ala559= | |
| NM_018253.4:c.1704G>A | NP_060723.2:p.Ala568= | |
| NM_139118.3:c.1875G>A | NP_620829.1:p.Ala625= | |
| NM_139119.3:c.1737G>A MANE Select | NP_620830.1:p.Ala579= | |
| NM_139121.3:c.1539G>A | NP_620832.1:p.Ala513= |