Linked Data
ClinVar Variation Id:
16666
ClinVar RCV Id:
RCV000018146
dbSNP Id:
rs121913042
gnomAD v2:
22-50965079-A-G
gnomAD v3:
22-50526650-A-G
gnomAD v4:
22-50526650-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526650A>G , CM000684.2:g.50526650A>G | GRCh38 |
| NC_000022.10:g.50965079A>G , CM000684.1:g.50965079A>G | GRCh37 |
| NC_000022.9:g.49311945A>G | NCBI36 |
| NG_011860.1:g.8436T>C , LRG_727:g.8436T>C | |
| NG_016235.1:g.4790T>C | |
| NG_021419.1:g.23435A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.854T>C MANE Select | ENSP00000252029.3:p.Leu285Pro | |
| ENST00000395680.6:c.854T>C | ENSP00000379037.1:p.Leu285Pro | |
| ENST00000395681.6:c.854T>C | ENSP00000379038.1:p.Leu285Pro | |
| ENST00000650719.1:c.735T>C | ENSP00000498276.1:p.Pro245= | |
| ENST00000651401.1:c.338T>C | ENSP00000499115.1:p.Leu113Pro | |
| ENST00000652401.1:c.355T>C | ||
| ENST00000252029.7:c.854T>C | ENSP00000252029.3:p.Leu285Pro | |
| ENST00000395678.7:c.854T>C | ENSP00000379036.3:p.Leu285Pro | |
| ENST00000395680.5:c.854T>C | ENSP00000379037.1:p.Leu285Pro | |
| ENST00000395681.5:c.854T>C | ENSP00000379038.1:p.Leu285Pro | |
| ENST00000425169.1:c.755T>C | ENSP00000395875.1:p.Leu252Pro | |
| ENST00000476284.1:n.860T>C | ||
| ENST00000487577.5:n.1141T>C | ||
| NM_001113755.2:c.854T>C | NP_001107227.1:p.Leu285Pro | |
| NM_001113756.2:c.854T>C | NP_001107228.1:p.Leu285Pro | |
| NM_001257988.1:c.854T>C , LRG_727t1:c.854T>C | NP_001244917.1:p.Leu285Pro | |
| NM_001257989.1:c.854T>C , LRG_727t2:c.854T>C | NP_001244918.1:p.Leu285Pro | |
| NM_001953.4:c.854T>C | NP_001944.1:p.Leu285Pro | |
| NM_001113755.3:c.854T>C | NP_001107227.1:p.Leu285Pro | |
| NM_001113756.3:c.854T>C | NP_001107228.1:p.Leu285Pro | |
| NM_001953.5:c.854T>C MANE Select | NP_001944.1:p.Leu285Pro |