Linked Data
dbSNP Id:
rs764545194
ExAC:
3:150690247 G / C
gnomAD v2:
3-150690247-G-C
gnomAD v4:
3-150972460-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972460G>C , CM000665.2:g.150972460G>C | GRCh38 |
| NC_000003.11:g.150690247G>C , CM000665.1:g.150690247G>C | GRCh37 |
| NC_000003.10:g.152172937G>C | NCBI36 |
| NG_009168.1:g.5540C>G , LRG_700:g.5540C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.249C>G MANE Select | ENSP00000322280.1:p.Phe83Leu | |
| ENST00000468836.2:c.225C>G | ENSP00000419892.2:p.Phe75Leu | |
| ENST00000644099.1:c.90C>G | ENSP00000494762.1:p.Phe30Leu | |
| ENST00000645441.1:c.91C>G | ||
| ENST00000327047.5:c.249C>G | ENSP00000322280.1:p.Phe83Leu | |
| ENST00000328863.8:c.249C>G | ENSP00000329158.4:p.Phe83Leu | |
| ENST00000468836.1:c.-152C>G | ENSP00000419892.1:n.-152C>G | |
| ENST00000472224.1:n.255C>G | ||
| NM_001195794.1:c.249C>G , LRG_700t1:c.249C>G | NP_001182723.1:p.Phe83Leu | |
| NM_001256819.1:c.249C>G | NP_001243748.1:p.Phe83Leu | |
| NM_174878.2:c.249C>G | NP_777367.1:p.Phe83Leu | |
| NR_046380.2:n.540C>G | ||
| XR_924167.1:n.561C>G | ||
| NM_001256819.2:c.249C>G | NP_001243748.1:p.Phe83Leu | |
| NM_174878.3:c.249C>G MANE Select | NP_777367.1:p.Phe83Leu | |
| NR_046380.3:n.268C>G |