Linked Data
ClinVar Variation Id:
2000754
ClinVar RCV Id:
RCV002810615
dbSNP Id:
rs1296629379
gnomAD v3:
2-97724084-G-A
gnomAD v4:
2-97724084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97724084G>A , CM000664.2:g.97724084G>A | GRCh38 |
| NC_000002.11:g.98340547G>A , CM000664.1:g.98340547G>A | GRCh37 |
| NC_000002.10:g.97706979G>A | NCBI36 |
| NG_007727.1:g.15517G>A , LRG_126:g.15517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.48G>A | ENSP00000513759.1:p.Ser16= | |
| ENST00000698509.1:n.188G>A | ||
| ENST00000264972.10:c.48G>A MANE Select | ENSP00000264972.5:p.Ser16= | |
| ENST00000264972.9:c.48G>A | ENSP00000264972.5:p.Ser16= | |
| ENST00000483781.5:n.241G>A | ||
| NM_001079.3:c.48G>A , LRG_126t1:c.48G>A | NP_001070.2:p.Ser16= | |
| XM_005264015.3:c.48G>A | XP_005264072.1:p.Ser16= | |
| XM_006712728.2:c.48G>A | XP_006712791.1:p.Ser16= | |
| XM_011511783.1:c.48G>A | XP_011510085.1:p.Ser16= | |
| XR_923018.1:n.250G>A | ||
| XR_923019.1:n.250G>A | ||
| XR_923020.1:n.250G>A | ||
| XM_017004867.1:c.417G>A | XP_016860356.1:p.Ser139= | |
| XM_017004868.1:c.417G>A | XP_016860357.1:p.Ser139= | |
| XM_017004869.1:c.417G>A | XP_016860358.1:p.Ser139= | |
| XM_017004870.1:c.417G>A | XP_016860359.1:p.Ser139= | |
| XR_001738925.1:n.1656G>A | ||
| XR_001738926.1:n.1656G>A | ||
| XR_001738927.1:n.1656G>A | ||
| NM_001079.4:c.48G>A MANE Select | NP_001070.2:p.Ser16= | |
| NM_001378594.1:c.48G>A | NP_001365523.1:p.Ser16= |