Linked Data
ClinVar Variation Id:
1133
ClinVar RCV Id:
RCV000001192
dbSNP Id:
rs118203958
ExAC:
15:74483230 G / A
gnomAD v2:
15-74483230-G-A
gnomAD v3:
15-74190889-G-A
gnomAD v4:
15-74190889-G-A
PubMed:
PMID:17273977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74190889G>A , CM000677.2:g.74190889G>A | GRCh38 |
| NC_000015.9:g.74483230G>A , CM000677.1:g.74483230G>A | GRCh37 |
| NC_000015.8:g.72270283G>A | NCBI36 |
| NG_009207.1:g.23142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.878C>T MANE Select | ENSP00000378537.4:p.Pro293Leu | |
| ENST00000323940.9:c.878C>T | ENSP00000326085.5:p.Pro293Leu | |
| ENST00000395105.8:c.878C>T | ENSP00000378537.4:p.Pro293Leu | |
| ENST00000416286.7:c.854C>T | ENSP00000400403.3:p.Pro285Leu | |
| ENST00000423167.6:c.851C>T | ENSP00000413012.2:p.Pro284Leu | |
| ENST00000449139.6:c.878C>T | ENSP00000410221.2:p.Pro293Leu | |
| ENST00000535552.5:c.989C>T | ENSP00000440238.1:p.Pro330Leu | |
| ENST00000545137.5:n.587C>T | ||
| ENST00000563965.5:c.995C>T | ENSP00000456609.1:p.Pro332Leu | |
| ENST00000569936.5:c.1008C>T | ENSP00000461799.1:p.Pro336= | |
| ENST00000572975.1:n.791C>T | ||
| ENST00000574278.5:c.923C>T | ENSP00000458827.1:p.Pro308Leu | |
| ENST00000574439.5:n.1150C>T | ||
| ENST00000616000.4:c.878C>T | ENSP00000479112.1:p.Pro293Leu | |
| NM_001142617.1:c.878C>T | NP_001136089.1:p.Pro293Leu | |
| NM_001142618.1:c.878C>T | NP_001136090.1:p.Pro293Leu | |
| NM_001142619.1:c.851C>T | NP_001136091.1:p.Pro284Leu | |
| NM_001199040.1:c.989C>T | NP_001185969.1:p.Pro330Leu | |
| NM_001199041.1:c.923C>T | NP_001185970.1:p.Pro308Leu | |
| NM_001199042.1:c.995C>T | NP_001185971.1:p.Pro332Leu | |
| NM_022369.3:c.878C>T | NP_071764.3:p.Pro293Leu | |
| XM_011521883.1:c.878C>T | XP_011520185.1:p.Pro293Leu | |
| XM_011521884.1:c.689C>T | XP_011520186.1:p.Pro230Leu | |
| XM_011521885.1:c.995C>T | XP_011520187.1:p.Pro332Leu | |
| XR_931877.1:n.1001C>T | ||
| XM_011521885.2:c.995C>T | XP_011520187.1:p.Pro332Leu | |
| XM_017022478.1:c.926C>T | XP_016877967.1:p.Pro309Leu | |
| XM_017022479.1:c.878C>T | XP_016877968.1:p.Pro293Leu | |
| XM_017022480.1:c.689C>T | XP_016877969.1:p.Pro230Leu | |
| XR_931877.2:n.1001C>T | ||
| NM_022369.4:c.878C>T MANE Select | NP_071764.3:p.Pro293Leu | |
| NM_001142617.2:c.878C>T | NP_001136089.1:p.Pro293Leu | |
| NM_001142619.2:c.851C>T | NP_001136091.1:p.Pro284Leu | |
| NM_001199042.2:c.995C>T | NP_001185971.1:p.Pro332Leu | |
| NM_001142618.2:c.878C>T | NP_001136090.1:p.Pro293Leu | |
| NM_001199040.2:c.989C>T | NP_001185969.1:p.Pro330Leu | |
| NM_001199041.2:c.923C>T | NP_001185970.1:p.Pro308Leu |