Linked Data
ClinVar Variation Id:
245627
ClinVar RCV Id:
RCV000236185
RCV000544728
RCV000790269
RCV001027460
RCV002265708
RCV002272190
RCV002429143
dbSNP Id:
rs201060167
ExAC:
11:68696672 T / C
gnomAD v2:
11-68696672-T-C
gnomAD v3:
11-68929204-T-C
gnomAD v4:
11-68929204-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68929204T>C , CM000673.2:g.68929204T>C | GRCh38 |
| NC_000011.9:g.68696672T>C , CM000673.1:g.68696672T>C | GRCh37 |
| NC_000011.8:g.68453248T>C | NCBI36 |
| NG_007976.1:g.30354T>C , LRG_250:g.30354T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1082T>C MANE Select | ENSP00000255078.4:p.Leu361Pro | |
| ENST00000674698.1:n.22T>C | ||
| ENST00000674745.1:c.247T>C | ENSP00000502738.1:n.247T>C | |
| ENST00000674775.1:n.282T>C | ||
| ENST00000674955.1:c.1082T>C | ENSP00000502463.1:p.Leu361Pro | |
| ENST00000675118.1:c.570T>C | ||
| ENST00000675305.1:c.402T>C | ENSP00000502365.1:n.402T>C | |
| ENST00000675310.1:n.22T>C | ||
| ENST00000675493.1:n.243T>C | ||
| ENST00000675615.1:c.1082T>C | ENSP00000502413.1:p.Leu361Pro | |
| ENST00000675648.1:n.457T>C | ||
| ENST00000675684.1:c.209T>C | ENSP00000502192.1:p.Leu70Pro | |
| ENST00000675755.1:n.22T>C | ||
| ENST00000676083.1:n.22T>C | ||
| ENST00000676173.1:n.1126T>C | ||
| ENST00000676228.1:c.*405T>C | ENSP00000502375.1:n.*405T>C | |
| ENST00000676240.1:n.22T>C | ||
| ENST00000676400.1:n.22T>C | ||
| ENST00000255078.7:c.1082T>C | ENSP00000255078.3:p.Leu361Pro | |
| ENST00000568742.1:n.192T>C | ||
| NM_002180.2:c.1082T>C , LRG_250t1:c.1082T>C | NP_002171.2:p.Leu361Pro | |
| XM_005273974.2:c.71T>C | XP_005274031.1:p.Leu24Pro | |
| XM_005273976.1:c.1082T>C | XP_005274033.1:p.Leu361Pro | |
| XR_247198.1:n.1184T>C | ||
| XR_949903.1:n.1184T>C | ||
| XM_005273976.2:c.1082T>C | XP_005274033.1:p.Leu361Pro | |
| XM_017017669.2:c.71T>C | XP_016873158.1:p.Leu24Pro | |
| XM_017017670.2:c.71T>C | XP_016873159.1:p.Leu24Pro | |
| XM_017017671.2:c.1082T>C | XP_016873160.1:p.Leu361Pro | |
| XR_949903.3:n.1180T>C | ||
| NM_002180.3:c.1082T>C MANE Select | NP_002171.2:p.Leu361Pro |