Linked Data
ClinVar Variation Id:
94986
dbSNP Id:
rs111803773
ExAC:
2:238253261 G / A
gnomAD v2:
2-238253261-G-A
gnomAD v3:
2-237344618-G-A
gnomAD v4:
2-237344618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344618G>A , CM000664.2:g.237344618G>A | GRCh38 |
| NC_000002.11:g.238253261G>A , CM000664.1:g.238253261G>A | GRCh37 |
| NC_000002.10:g.237918000G>A | NCBI36 |
| NG_008676.1:g.74590C>T , LRG_473:g.74590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.45C>T | ||
| ENST00000353578.9:c.6782C>T | ENSP00000315873.4:p.Ser2261Leu | |
| ENST00000295550.9:c.7400C>T MANE Select | ENSP00000295550.4:p.Ser2467Leu | |
| ENST00000295550.8:c.7400C>T | ENSP00000295550.4:p.Ser2467Leu | |
| ENST00000347401.7:c.5576C>T | ENSP00000315609.4:p.Ser1859Leu | |
| ENST00000353578.8:c.6782C>T | ENSP00000315873.4:p.Ser2261Leu | |
| ENST00000409809.5:c.6782C>T | ENSP00000386844.1:p.Ser2261Leu | |
| ENST00000472056.5:c.5579C>T | ENSP00000418285.1:p.Ser1860Leu | |
| ENST00000491769.1:n.1654C>T | ||
| NM_004369.3:c.7400C>T , LRG_473t1:c.7400C>T | NP_004360.2:p.Ser2467Leu | |
| NM_057166.4:c.5579C>T | NP_476507.3:p.Ser1860Leu | |
| NM_057167.3:c.6782C>T | NP_476508.2:p.Ser2261Leu | |
| XM_005246065.1:c.6800C>T | XP_005246122.1:p.Ser2267Leu | |
| XM_005246066.1:c.6179C>T | XP_005246123.1:p.Ser2060Leu | |
| XM_006712253.1:c.6899C>T | XP_006712316.1:p.Ser2300Leu | |
| XM_011510574.1:c.7397C>T | XP_011508876.1:p.Ser2466Leu | |
| XM_011510575.1:c.4994C>T | XP_011508877.1:p.Ser1665Leu | |
| XM_017003304.1:c.4994C>T | XP_016858793.1:p.Ser1665Leu | |
| XM_024452684.1:c.6179C>T | XP_024308452.1:p.Ser2060Leu | |
| NM_004369.4:c.7400C>T MANE Select | NP_004360.2:p.Ser2467Leu | |
| NM_057166.5:c.5579C>T | NP_476507.3:p.Ser1860Leu | |
| NM_057167.4:c.6782C>T | NP_476508.2:p.Ser2261Leu |