Linked Data
ClinVar Variation Id:
2116300
ClinVar RCV Id:
RCV003024651
dbSNP Id:
rs1202020218
gnomAD v2:
5-131007672-G-A
gnomAD v4:
5-131671979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131671979G>A , CM000667.2:g.131671979G>A | GRCh38 |
| NC_000005.9:g.131007672G>A , CM000667.1:g.131007672G>A | GRCh37 |
| NC_000005.8:g.131035571G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510461.6:c.2465C>T MANE Select | ENSP00000421985.1:p.Pro822Leu | |
| ENST00000307954.12:c.2330C>T | ENSP00000310453.8:p.Pro777Leu | |
| ENST00000307968.11:c.2381C>T | ENSP00000309266.7:p.Pro794Leu | |
| ENST00000510461.5:c.2465C>T | ENSP00000421985.1:p.Pro822Leu | |
| ENST00000514667.1:c.220-67286C>T | ENSP00000426948.1:n.220-67286C>T | |
| ENST00000615660.4:c.1721C>T | ENSP00000480650.1:p.Pro574Leu | |
| NM_001008738.2:c.2381C>T | NP_001008738.2:p.Pro794Leu | |
| NM_133372.2:c.2465C>T | NP_588613.2:p.Pro822Leu | |
| NM_001346114.1:c.2330C>T | NP_001333043.1:p.Pro777Leu | |
| NM_133372.3:c.2465C>T MANE Select | NP_588613.3:p.Pro822Leu | |
| NM_001008738.3:c.2381C>T | NP_001008738.3:p.Pro794Leu | |
| NM_001346114.2:c.2330C>T | NP_001333043.1:p.Pro777Leu |