Linked Data
ClinVar Variation Id:
77
dbSNP Id:
rs121965086
ExAC:
10:90984925 A / G
gnomAD v2:
10-90984925-A-G
gnomAD v3:
10-89225168-A-G
gnomAD v4:
10-89225168-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89225168A>G , CM000672.2:g.89225168A>G | GRCh38 |
| NC_000010.10:g.90984925A>G , CM000672.1:g.90984925A>G | GRCh37 |
| NC_000010.9:g.90974905A>G | NCBI36 |
| NG_008194.1:g.31736T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336233.10:c.599T>C MANE Select | ENSP00000337354.5:p.Leu200Pro | |
| ENST00000282673.5:c.599T>C | ENSP00000282673.4:p.Leu200Pro | |
| ENST00000336233.9:c.599T>C | ENSP00000337354.5:p.Leu200Pro | |
| ENST00000371837.5:c.431T>C | ENSP00000360903.1:p.Leu144Pro | |
| ENST00000428800.5:c.599T>C | ENSP00000388415.1:p.Leu200Pro | |
| ENST00000456827.5:c.251T>C | ENSP00000413019.2:p.Leu84Pro | |
| NM_000235.3:c.599T>C | NP_000226.2:p.Leu200Pro | |
| NM_001127605.2:c.599T>C | NP_001121077.1:p.Leu200Pro | |
| NM_001288979.1:c.251T>C | NP_001275908.1:p.Leu84Pro | |
| XM_024448023.1:c.599T>C | XP_024303791.1:p.Leu200Pro | |
| NM_000235.4:c.599T>C MANE Select | NP_000226.2:p.Leu200Pro | |
| NM_001127605.3:c.599T>C | NP_001121077.1:p.Leu200Pro | |
| NM_001288979.2:c.251T>C | NP_001275908.1:p.Leu84Pro |