Linked Data
ClinVar Variation Id:
2155836
ClinVar RCV Id:
RCV003072540
dbSNP Id:
rs1205330837
gnomAD v3:
3-150972513-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972513A>G , CM000665.2:g.150972513A>G | GRCh38 |
| NC_000003.11:g.150690300A>G , CM000665.1:g.150690300A>G | GRCh37 |
| NC_000003.10:g.152172990A>G | NCBI36 |
| NG_009168.1:g.5487T>C , LRG_700:g.5487T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.196T>C MANE Select | ENSP00000322280.1:p.Phe66Leu | |
| ENST00000468836.2:c.172T>C | ENSP00000419892.2:p.Phe58Leu | |
| ENST00000644099.1:c.37T>C | ENSP00000494762.1:p.Phe13Leu | |
| ENST00000645441.1:c.38T>C | ||
| ENST00000327047.5:c.196T>C | ENSP00000322280.1:p.Phe66Leu | |
| ENST00000328863.8:c.196T>C | ENSP00000329158.4:p.Phe66Leu | |
| ENST00000468836.1:c.-205T>C | ENSP00000419892.1:n.-205T>C | |
| ENST00000472224.1:n.202T>C | ||
| NM_001195794.1:c.196T>C , LRG_700t1:c.196T>C | NP_001182723.1:p.Phe66Leu | |
| NM_001256819.1:c.196T>C | NP_001243748.1:p.Phe66Leu | |
| NM_174878.2:c.196T>C | NP_777367.1:p.Phe66Leu | |
| NR_046380.2:n.487T>C | ||
| XR_924167.1:n.508T>C | ||
| NM_001256819.2:c.196T>C | NP_001243748.1:p.Phe66Leu | |
| NM_174878.3:c.196T>C MANE Select | NP_777367.1:p.Phe66Leu | |
| NR_046380.3:n.215T>C |