Linked Data
dbSNP Id:
rs747665589
ExAC:
9:123724974 G / C
gnomAD v2:
9-123724974-G-C
gnomAD v4:
9-120962696-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962696G>C , CM000671.2:g.120962696G>C | GRCh38 |
| NC_000009.11:g.123724974G>C , CM000671.1:g.123724974G>C | GRCh37 |
| NC_000009.10:g.122764795G>C | NCBI36 |
| NG_007364.1:g.92581C>G , LRG_28:g.92581C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1513C>G | ||
| ENST00000696279.1:c.4799C>G | ||
| ENST00000696280.1:n.4568C>G | ||
| ENST00000696281.1:c.4497C>G | ENSP00000512521.1:p.Phe1499Leu | |
| ENST00000697921.1:n.3357C>G | ||
| ENST00000697922.1:c.*4469C>G | ENSP00000513478.1:n.*4469C>G | |
| ENST00000697923.1:n.4924C>G | ||
| ENST00000223642.3:c.4479C>G MANE Select | ENSP00000223642.1:p.Phe1493Leu | |
| ENST00000223642.2:c.4479C>G | ENSP00000223642.1:p.Phe1493Leu | |
| ENST00000480188.1:n.12C>G | ||
| NM_001735.2:c.4479C>G , LRG_28t1:c.4479C>G | NP_001726.2:p.Phe1493Leu | |
| XM_011518980.1:c.4494C>G | XP_011517282.1:p.Phe1498Leu | |
| NM_001317163.1:c.4497C>G | NP_001304092.1:p.Phe1499Leu | |
| NM_001317163.2:c.4497C>G | NP_001304092.1:p.Phe1499Leu | |
| NM_001735.3:c.4479C>G MANE Select | NP_001726.2:p.Phe1493Leu |