Linked Data
dbSNP Id:
rs542471141
ExAC:
4:5620336 A / G
gnomAD v3:
4-5618609-A-G
gnomAD v4:
4-5618609-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5618609A>G , CM000666.2:g.5618609A>G | GRCh38 |
| NC_000004.11:g.5620336A>G , CM000666.1:g.5620336A>G | GRCh37 |
| NC_000004.10:g.5671237A>G | NCBI36 |
| NG_015821.1:g.95940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2575T>C MANE Select | ENSP00000342144.5:p.Phe859Leu | |
| ENST00000310917.6:c.2335T>C | ENSP00000311683.2:p.Phe779Leu | |
| ENST00000344408.9:c.2575T>C | ENSP00000342144.5:p.Phe859Leu | |
| ENST00000475313.5:c.2335T>C | ENSP00000431981.1:p.Phe779Leu | |
| ENST00000509670.1:c.*968T>C | ENSP00000423876.1:n.*968T>C | |
| NM_001166136.1:c.2335T>C | NP_001159608.1:p.Phe779Leu | |
| NM_147127.4:c.2575T>C | NP_667338.3:p.Phe859Leu | |
| XM_011513392.1:c.2584T>C | XP_011511694.1:p.Phe862Leu | |
| XM_011513393.1:c.2584T>C | XP_011511695.1:p.Phe862Leu | |
| XM_011513394.1:c.2344T>C | XP_011511696.1:p.Phe782Leu | |
| XM_017007736.1:c.2335T>C | XP_016863225.1:p.Phe779Leu | |
| XM_017007737.1:c.2335T>C | XP_016863226.1:p.Phe779Leu | |
| XM_017007738.1:c.2575T>C | XP_016863227.1:p.Phe859Leu | |
| XM_017007739.1:c.895T>C | XP_016863228.1:p.Phe299Leu | |
| XM_024453893.1:c.895T>C | XP_024309661.1:p.Phe299Leu | |
| XR_001741141.1:n.2640T>C | ||
| NM_147127.5:c.2575T>C MANE Select | NP_667338.3:p.Phe859Leu | |
| NM_001166136.2:c.2335T>C | NP_001159608.1:p.Phe779Leu |