Linked Data
dbSNP Id:
rs751140837
ExAC:
3:150690255 A / G
gnomAD v2:
3-150690255-A-G
gnomAD v4:
3-150972468-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972468A>G , CM000665.2:g.150972468A>G | GRCh38 |
| NC_000003.11:g.150690255A>G , CM000665.1:g.150690255A>G | GRCh37 |
| NC_000003.10:g.152172945A>G | NCBI36 |
| NG_009168.1:g.5532T>C , LRG_700:g.5532T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.241T>C MANE Select | ENSP00000322280.1:p.Phe81Leu | |
| ENST00000468836.2:c.217T>C | ENSP00000419892.2:p.Phe73Leu | |
| ENST00000644099.1:c.82T>C | ENSP00000494762.1:p.Phe28Leu | |
| ENST00000645441.1:c.83T>C | ||
| ENST00000327047.5:c.241T>C | ENSP00000322280.1:p.Phe81Leu | |
| ENST00000328863.8:c.241T>C | ENSP00000329158.4:p.Phe81Leu | |
| ENST00000468836.1:c.-160T>C | ENSP00000419892.1:n.-160T>C | |
| ENST00000472224.1:n.247T>C | ||
| NM_001195794.1:c.241T>C , LRG_700t1:c.241T>C | NP_001182723.1:p.Phe81Leu | |
| NM_001256819.1:c.241T>C | NP_001243748.1:p.Phe81Leu | |
| NM_174878.2:c.241T>C | NP_777367.1:p.Phe81Leu | |
| NR_046380.2:n.532T>C | ||
| XR_924167.1:n.553T>C | ||
| NM_001256819.2:c.241T>C | NP_001243748.1:p.Phe81Leu | |
| NM_174878.3:c.241T>C MANE Select | NP_777367.1:p.Phe81Leu | |
| NR_046380.3:n.260T>C |