Linked Data
ClinVar Variation Id:
194014
dbSNP Id:
rs374690853
ExAC:
2:56094277 G / A
gnomAD v2:
2-56094277-G-A
gnomAD v3:
2-55867142-G-A
gnomAD v4:
2-55867142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55867142G>A , CM000664.2:g.55867142G>A | GRCh38 |
| NC_000002.11:g.56094277G>A , CM000664.1:g.56094277G>A | GRCh37 |
| NC_000002.10:g.55947781G>A | NCBI36 |
| NG_009098.1:g.61656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355426.8:c.1413C>T MANE Select | ENSP00000347596.3:p.Ser471= | |
| ENST00000355426.7:c.1413C>T | ENSP00000347596.3:p.Ser471= | |
| ENST00000394555.6:c.1413C>T | ENSP00000378058.2:p.Ser471= | |
| ENST00000634374.1:c.772C>T | ||
| ENST00000635671.1:c.*1065C>T | ENSP00000489578.1:n.*1065C>T | |
| NM_001039348.2:c.1413C>T | NP_001034437.1:p.Ser471= | |
| NM_001039349.2:c.1413C>T | NP_001034438.1:p.Ser471= | |
| XM_005264205.3:c.1563C>T | XP_005264262.1:p.Ser521= | |
| XR_940108.1:n.229-6741G>A | ||
| XM_005264205.4:c.1563C>T | XP_005264262.1:p.Ser521= | |
| XM_017003586.2:c.1173C>T | XP_016859075.1:p.Ser391= | |
| XM_024452755.1:c.1413C>T | XP_024308523.1:p.Ser471= | |
| XM_024452756.1:c.1413C>T | XP_024308524.1:p.Ser471= | |
| XM_024452757.1:c.1173C>T | XP_024308525.1:p.Ser391= | |
| XR_002959388.1:n.229-6741G>A | ||
| NM_001039348.3:c.1413C>T MANE Select | NP_001034437.1:p.Ser471= | |
| NM_001039349.3:c.1413C>T | NP_001034438.1:p.Ser471= |