Linked Data
dbSNP Id:
rs778833148
ExAC:
1:158582717 A / G
gnomAD v2:
1-158582717-A-G
gnomAD v3:
1-158612927-A-G
gnomAD v4:
1-158612927-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612927A>G , CM000663.2:g.158612927A>G | GRCh38 |
| NC_000001.10:g.158582717A>G , CM000663.1:g.158582717A>G | GRCh37 |
| NC_000001.9:g.156849341A>G | NCBI36 |
| NG_011474.1:g.78790T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.7024T>C MANE Select | ENSP00000495214.1:p.Phe2342Leu | |
| ENST00000368147.8:c.7024T>C | ENSP00000357129.4:p.Phe2342Leu | |
| ENST00000481212.5:n.465T>C | ||
| ENST00000498708.1:n.456T>C | ||
| ENST00000614909.4:c.7024T>C | ENSP00000482595.1:p.Phe2342Leu | |
| NM_003126.2:c.7024T>C | NP_003117.2:p.Phe2342Leu | |
| XM_011509916.1:c.7024T>C | XP_011508218.1:p.Phe2342Leu | |
| XM_011509917.1:c.7006T>C | XP_011508219.1:p.Phe2336Leu | |
| NM_003126.3:c.7024T>C | NP_003117.2:p.Phe2342Leu | |
| XM_011509916.2:c.7024T>C | XP_011508218.1:p.Phe2342Leu | |
| XM_011509917.3:c.7006T>C | XP_011508219.1:p.Phe2336Leu | |
| NM_003126.4:c.7024T>C MANE Select | NP_003117.2:p.Phe2342Leu |