Linked Data
ClinVar Variation Id:
388115
ClinVar RCV Id:
RCV000884685
dbSNP Id:
rs149792171
ExAC:
7:107626764 A / G
gnomAD v2:
7-107626764-A-G
gnomAD v3:
7-107986319-A-G
gnomAD v4:
7-107986319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107986319A>G , CM000669.2:g.107986319A>G | GRCh38 |
| NC_000007.13:g.107626764A>G , CM000669.1:g.107626764A>G | GRCh37 |
| NC_000007.12:g.107414000A>G | NCBI36 |
| NG_023255.1:g.22041T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.468T>C MANE Select | ENSP00000222399.6:p.Phe156= | |
| ENST00000393561.6:c.57T>C | ENSP00000377191.2:p.Phe19= | |
| ENST00000439976.6:c.726T>C | ENSP00000412686.2:p.Phe242= | |
| ENST00000676574.1:c.468T>C | ENSP00000503081.1:p.Phe156= | |
| ENST00000676777.1:c.468T>C | ENSP00000504756.1:p.Phe156= | |
| ENST00000676920.1:c.57T>C | ENSP00000503814.1:p.Phe19= | |
| ENST00000677101.1:c.*104T>C | ENSP00000503156.1:n.*104T>C | |
| ENST00000677144.1:c.468T>C | ENSP00000503049.1:p.Phe156= | |
| ENST00000677485.1:n.1692T>C | ||
| ENST00000677588.1:c.468T>C | ENSP00000502938.1:p.Phe156= | |
| ENST00000677652.1:n.657T>C | ||
| ENST00000677734.1:n.657T>C | ||
| ENST00000677793.1:c.468T>C | ENSP00000504020.1:p.Phe156= | |
| ENST00000677801.1:c.57T>C | ENSP00000503438.1:p.Phe19= | |
| ENST00000677994.1:n.634T>C | ||
| ENST00000678232.1:n.657T>C | ||
| ENST00000678266.1:n.610T>C | ||
| ENST00000678346.1:c.*104T>C | ENSP00000504349.1:n.*104T>C | |
| ENST00000678698.1:c.57T>C | ENSP00000503198.1:p.Phe19= | |
| ENST00000678704.1:c.468T>C | ENSP00000504589.1:p.Phe156= | |
| ENST00000678892.1:c.468T>C | ENSP00000504841.1:p.Phe156= | |
| ENST00000679173.1:n.657T>C | ||
| ENST00000679200.1:c.57T>C | ENSP00000503498.1:p.Phe19= | |
| ENST00000679244.1:c.468T>C | ENSP00000504656.1:p.Phe156= | |
| ENST00000222399.10:c.468T>C | ENSP00000222399.6:p.Phe156= | |
| ENST00000393560.5:c.468T>C | ENSP00000377190.1:p.Phe156= | |
| ENST00000393561.5:c.540T>C | ENSP00000377191.1:p.Phe180= | |
| NM_002291.2:c.468T>C | NP_002282.2:p.Phe156= | |
| XM_011516203.1:c.468T>C | XP_011514505.1:p.Phe156= | |
| XM_017012201.1:c.540T>C | XP_016867690.1:p.Phe180= | |
| XM_017012202.1:c.540T>C | XP_016867691.1:p.Phe180= | |
| XR_001744756.1:n.1271T>C | ||
| NM_002291.3:c.468T>C MANE Select | NP_002282.2:p.Phe156= |