Linked Data
ClinVar Variation Id:
466599
ClinVar RCV Id:
RCV000554099
dbSNP Id:
rs773582904
ExAC:
11:68682394 T / C
gnomAD v2:
11-68682394-T-C
gnomAD v3:
11-68914926-T-C
gnomAD v4:
11-68914926-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914926T>C , CM000673.2:g.68914926T>C | GRCh38 |
| NC_000011.9:g.68682394T>C , CM000673.1:g.68682394T>C | GRCh37 |
| NC_000011.8:g.68438970T>C | NCBI36 |
| NG_007976.1:g.16076T>C , LRG_250:g.16076T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.815T>C MANE Select | ENSP00000255078.4:p.Leu272Pro | |
| ENST00000539224.2:c.944T>C | ||
| ENST00000674955.1:c.815T>C | ENSP00000502463.1:p.Leu272Pro | |
| ENST00000675118.1:c.162T>C | ||
| ENST00000675119.1:c.104T>C | ENSP00000501861.1:p.Leu35Pro | |
| ENST00000675305.1:c.104T>C | ENSP00000502365.1:p.Leu35Pro | |
| ENST00000675464.1:c.104T>C | ENSP00000502650.1:p.Leu35Pro | |
| ENST00000675615.1:c.815T>C | ENSP00000502413.1:p.Leu272Pro | |
| ENST00000675683.1:c.202T>C | ||
| ENST00000676173.1:n.859T>C | ||
| ENST00000676228.1:c.*138T>C | ENSP00000502375.1:n.*138T>C | |
| ENST00000676239.1:n.129T>C | ||
| ENST00000255078.7:c.815T>C | ENSP00000255078.3:p.Leu272Pro | |
| ENST00000539224.1:c.*138T>C | ENSP00000440465.1:n.*138T>C | |
| NM_002180.2:c.815T>C , LRG_250t1:c.815T>C | NP_002171.2:p.Leu272Pro | |
| XM_005273974.2:c.-197T>C | XP_005274031.1:n.-197T>C | |
| XM_005273976.1:c.815T>C | XP_005274033.1:p.Leu272Pro | |
| XR_247198.1:n.917T>C | ||
| XR_949903.1:n.917T>C | ||
| XM_005273976.2:c.815T>C | XP_005274033.1:p.Leu272Pro | |
| XM_017017669.2:c.-197T>C | XP_016873158.1:n.-197T>C | |
| XM_017017670.2:c.-197T>C | XP_016873159.1:n.-197T>C | |
| XM_017017671.2:c.815T>C | XP_016873160.1:p.Leu272Pro | |
| XR_949903.3:n.913T>C | ||
| NM_002180.3:c.815T>C MANE Select | NP_002171.2:p.Leu272Pro |