Linked Data
ClinVar Variation Id:
178047
dbSNP Id:
rs200300118
ExAC:
6:112430670 G / A
gnomAD v2:
6-112430670-G-A
gnomAD v3:
6-112109467-G-A
gnomAD v4:
6-112109467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112109467G>A , CM000668.2:g.112109467G>A | GRCh38 |
| NC_000006.11:g.112430670G>A , CM000668.1:g.112430670G>A | GRCh37 |
| NC_000006.10:g.112537363G>A | NCBI36 |
| NG_008209.1:g.150159C>T , LRG_433:g.150159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.5442C>T MANE Select | ENSP00000230538.7:p.Ala1814= | |
| ENST00000389463.9:c.5421C>T | ENSP00000374114.4:p.Ala1807= | |
| ENST00000651529.1:c.1460C>T | ||
| ENST00000651860.1:c.3165C>T | ENSP00000498842.1:p.Ala1055= | |
| ENST00000230538.11:c.5442C>T | ENSP00000230538.7:p.Ala1814= | |
| ENST00000389463.8:c.5421C>T | ENSP00000374114.4:p.Ala1807= | |
| ENST00000424408.6:c.5421C>T | ENSP00000416470.2:p.Ala1807= | |
| ENST00000522006.5:c.5421C>T | ENSP00000429488.1:p.Ala1807= | |
| NM_001105206.2:c.5442C>T | NP_001098676.2:p.Ala1814= | |
| NM_001105207.2:c.5421C>T | NP_001098677.2:p.Ala1807= | |
| NM_002290.4:c.5421C>T | NP_002281.3:p.Ala1807= | |
| XM_005266983.3:c.5442C>T | XP_005267040.2:p.Ala1814= | |
| XM_005266984.3:c.5442C>T | XP_005267041.2:p.Ala1814= | |
| XM_005266983.4:c.5442C>T | XP_005267040.2:p.Ala1814= | |
| XM_005266984.4:c.5442C>T | XP_005267041.2:p.Ala1814= | |
| XM_017010854.2:c.5421C>T | XP_016866343.1:p.Ala1807= | |
| XR_001743406.2:n.5579C>T | ||
| XR_001743407.2:n.5558C>T | ||
| NM_001105206.3:c.5442C>T MANE Select | NP_001098676.2:p.Ala1814= | |
| NM_001105207.3:c.5421C>T | NP_001098677.2:p.Ala1807= | |
| NM_002290.5:c.5421C>T | NP_002281.3:p.Ala1807= |