Linked Data
ClinVar Variation Id:
1138
ClinVar RCV Id:
RCV000001197
dbSNP Id:
rs118203962
ExAC:
15:74481585 T / G
gnomAD v2:
15-74481585-T-G
gnomAD v3:
15-74189244-T-G
gnomAD v4:
15-74189244-T-G
PubMed:
PMID:17273977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74189244T>G , CM000677.2:g.74189244T>G | GRCh38 |
| NC_000015.9:g.74481585T>G , CM000677.1:g.74481585T>G | GRCh37 |
| NC_000015.8:g.72268638T>G | NCBI36 |
| NG_009207.1:g.24787A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.961A>C MANE Select | ENSP00000378537.4:p.Thr321Pro | |
| ENST00000323940.9:c.961A>C | ENSP00000326085.5:p.Thr321Pro | |
| ENST00000395105.8:c.961A>C | ENSP00000378537.4:p.Thr321Pro | |
| ENST00000416286.7:c.937A>C | ENSP00000400403.3:p.Thr313Pro | |
| ENST00000423167.6:c.934A>C | ENSP00000413012.2:p.Thr312Pro | |
| ENST00000449139.6:c.961A>C | ENSP00000410221.2:p.Thr321Pro | |
| ENST00000535552.5:c.1072A>C | ENSP00000440238.1:p.Thr358Pro | |
| ENST00000545137.5:n.670A>C | ||
| ENST00000563965.5:c.1078A>C | ENSP00000456609.1:p.Thr360Pro | |
| ENST00000569936.5:c.1091A>C | ENSP00000461799.1:p.His364Pro | |
| ENST00000574278.5:c.1006A>C | ENSP00000458827.1:p.Thr336Pro | |
| ENST00000574439.5:n.1233A>C | ||
| ENST00000616000.4:c.961A>C | ENSP00000479112.1:p.Thr321Pro | |
| NM_001142617.1:c.961A>C | NP_001136089.1:p.Thr321Pro | |
| NM_001142618.1:c.961A>C | NP_001136090.1:p.Thr321Pro | |
| NM_001142619.1:c.934A>C | NP_001136091.1:p.Thr312Pro | |
| NM_001199040.1:c.1072A>C | NP_001185969.1:p.Thr358Pro | |
| NM_001199041.1:c.1006A>C | NP_001185970.1:p.Thr336Pro | |
| NM_001199042.1:c.1078A>C | NP_001185971.1:p.Thr360Pro | |
| NM_022369.3:c.961A>C | NP_071764.3:p.Thr321Pro | |
| XM_011521883.1:c.961A>C | XP_011520185.1:p.Thr321Pro | |
| XM_011521884.1:c.772A>C | XP_011520186.1:p.Thr258Pro | |
| XM_011521885.1:c.1078A>C | XP_011520187.1:p.Thr360Pro | |
| XR_931877.1:n.1084A>C | ||
| XM_011521885.2:c.1078A>C | XP_011520187.1:p.Thr360Pro | |
| XM_017022478.1:c.1009A>C | XP_016877967.1:p.Thr337Pro | |
| XM_017022479.1:c.961A>C | XP_016877968.1:p.Thr321Pro | |
| XM_017022480.1:c.772A>C | XP_016877969.1:p.Thr258Pro | |
| XR_931877.2:n.1084A>C | ||
| NM_022369.4:c.961A>C MANE Select | NP_071764.3:p.Thr321Pro | |
| NM_001142617.2:c.961A>C | NP_001136089.1:p.Thr321Pro | |
| NM_001142619.2:c.934A>C | NP_001136091.1:p.Thr312Pro | |
| NM_001199042.2:c.1078A>C | NP_001185971.1:p.Thr360Pro | |
| NM_001142618.2:c.961A>C | NP_001136090.1:p.Thr321Pro | |
| NM_001199040.2:c.1072A>C | NP_001185969.1:p.Thr358Pro | |
| NM_001199041.2:c.1006A>C | NP_001185970.1:p.Thr336Pro |