Linked Data
ClinVar Variation Id:
464034
dbSNP Id:
rs115067613
ExAC:
15:74488388 C / G
gnomAD v2:
15-74488388-C-G
gnomAD v3:
15-74196047-C-G
gnomAD v4:
15-74196047-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74196047C>G , CM000677.2:g.74196047C>G | GRCh38 |
| NC_000015.9:g.74488388C>G , CM000677.1:g.74488388C>G | GRCh37 |
| NC_000015.8:g.72275441C>G | NCBI36 |
| NG_009207.1:g.17984G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395105.9:c.367G>C MANE Select | ENSP00000378537.4:p.Ala123Pro | |
| ENST00000323940.9:c.367G>C | ENSP00000326085.5:p.Ala123Pro | |
| ENST00000395105.8:c.367G>C | ENSP00000378537.4:p.Ala123Pro | |
| ENST00000416286.7:c.367G>C | ENSP00000400403.3:p.Ala123Pro | |
| ENST00000423167.6:c.340G>C | ENSP00000413012.2:p.Ala114Pro | |
| ENST00000432245.6:c.367G>C | ENSP00000407176.2:p.Ala123Pro | |
| ENST00000449139.6:c.367G>C | ENSP00000410221.2:p.Ala123Pro | |
| ENST00000535552.5:c.478G>C | ENSP00000440238.1:p.Ala160Pro | |
| ENST00000545137.5:n.243G>C | ||
| ENST00000563965.5:c.484G>C | ENSP00000456609.1:p.Ala162Pro | |
| ENST00000569936.5:c.367G>C | ENSP00000461799.1:p.Ala123Pro | |
| ENST00000573214.5:n.447G>C | ||
| ENST00000573456.5:n.651G>C | ||
| ENST00000573724.1:n.252-372G>C | ||
| ENST00000574278.5:c.412G>C | ENSP00000458827.1:p.Ala138Pro | |
| ENST00000574439.5:n.639G>C | ||
| ENST00000616000.4:c.367G>C | ENSP00000479112.1:p.Ala123Pro | |
| NM_001142617.1:c.367G>C | NP_001136089.1:p.Ala123Pro | |
| NM_001142618.1:c.367G>C | NP_001136090.1:p.Ala123Pro | |
| NM_001142619.1:c.340G>C | NP_001136091.1:p.Ala114Pro | |
| NM_001142620.1:c.367G>C | NP_001136092.1:p.Ala123Pro | |
| NM_001199040.1:c.478G>C | NP_001185969.1:p.Ala160Pro | |
| NM_001199041.1:c.412G>C | NP_001185970.1:p.Ala138Pro | |
| NM_001199042.1:c.484G>C | NP_001185971.1:p.Ala162Pro | |
| NM_022369.3:c.367G>C | NP_071764.3:p.Ala123Pro | |
| XM_011521883.1:c.367G>C | XP_011520185.1:p.Ala123Pro | |
| XM_011521884.1:c.178G>C | XP_011520186.1:p.Ala60Pro | |
| XM_011521885.1:c.484G>C | XP_011520187.1:p.Ala162Pro | |
| XR_931877.1:n.490G>C | ||
| XM_011521885.2:c.484G>C | XP_011520187.1:p.Ala162Pro | |
| XM_017022478.1:c.415G>C | XP_016877967.1:p.Ala139Pro | |
| XM_017022479.1:c.367G>C | XP_016877968.1:p.Ala123Pro | |
| XM_017022480.1:c.178G>C | XP_016877969.1:p.Ala60Pro | |
| XR_931877.2:n.490G>C | ||
| NM_022369.4:c.367G>C MANE Select | NP_071764.3:p.Ala123Pro | |
| NM_001142617.2:c.367G>C | NP_001136089.1:p.Ala123Pro | |
| NM_001142619.2:c.340G>C | NP_001136091.1:p.Ala114Pro | |
| NM_001199042.2:c.484G>C | NP_001185971.1:p.Ala162Pro | |
| NM_001142618.2:c.367G>C | NP_001136090.1:p.Ala123Pro | |
| NM_001142620.2:c.367G>C | NP_001136092.1:p.Ala123Pro | |
| NM_001199040.2:c.478G>C | NP_001185969.1:p.Ala160Pro | |
| NM_001199041.2:c.412G>C | NP_001185970.1:p.Ala138Pro |