Linked Data
ClinVar Variation Id:
242894
dbSNP Id:
rs745561217
ExAC:
9:90584788 A / G
gnomAD v2:
9-90584788-A-G
gnomAD v3:
9-87969873-A-G
gnomAD v4:
9-87969873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.87969873A>G , CM000671.2:g.87969873A>G | GRCh38 |
| NC_000009.11:g.90584788A>G , CM000671.1:g.90584788A>G | GRCh37 |
| NC_000009.10:g.89774608A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325303.9:c.610T>C MANE Select | ENSP00000322343.8:p.Phe204Leu | |
| ENST00000325303.8:c.610T>C | ENSP00000322343.8:p.Phe204Leu | |
| ENST00000336654.9:c.586T>C | ENSP00000338975.5:p.Phe196Leu | |
| ENST00000375871.8:c.501-524T>C | ENSP00000365031.3:n.501-524T>C | |
| ENST00000375883.7:c.547T>C | ENSP00000365043.3:p.Phe183Leu | |
| ENST00000459720.5:n.1642T>C | ||
| ENST00000486228.7:n.1010T>C | ||
| ENST00000603475.1:n.2076T>C | ||
| ENST00000605159.5:c.547T>C | ENSP00000474485.1:p.Phe183Leu | |
| NM_001039803.2:c.610T>C | NP_001034892.1:p.Phe204Leu | |
| NM_001170639.1:c.547T>C | NP_001164110.1:p.Phe183Leu | |
| NM_001170640.1:c.501-524T>C | NP_001164111.1:n.501-524T>C | |
| NM_012119.4:c.547T>C | NP_036251.2:p.Phe183Leu | |
| NM_178432.3:c.586T>C | NP_848519.1:p.Phe196Leu | |
| XM_011518425.1:c.664T>C | XP_011516727.1:p.Phe222Leu | |
| XM_011518426.1:c.649T>C | XP_011516728.1:p.Phe217Leu | |
| XM_011518427.1:c.625T>C | XP_011516729.1:p.Phe209Leu | |
| XM_011518428.1:c.610T>C | XP_011516730.1:p.Phe204Leu | |
| XM_011518429.1:c.586T>C | XP_011516731.1:p.Phe196Leu | |
| XM_011518430.1:c.547T>C | XP_011516732.1:p.Phe183Leu | |
| XM_011518431.1:c.664T>C | XP_011516733.1:p.Phe222Leu | |
| XM_011518432.1:c.649T>C | XP_011516734.1:p.Phe217Leu | |
| XM_011518433.1:c.540-524T>C | XP_011516735.1:n.540-524T>C | |
| XM_011518434.1:c.501-524T>C | XP_011516736.1:n.501-524T>C | |
| XM_011518435.1:c.540-524T>C | XP_011516737.1:n.540-524T>C | |
| XM_011518436.1:c.664T>C | XP_011516738.1:p.Phe222Leu | |
| XM_017014561.2:c.625T>C | XP_016870050.1:p.Phe209Leu | |
| XM_017014562.2:c.625T>C | XP_016870051.1:p.Phe209Leu | |
| XM_017014563.2:c.501-524T>C | XP_016870052.1:n.501-524T>C | |
| XM_017014564.2:c.547T>C | XP_016870053.1:p.Phe183Leu | |
| XR_001746263.2:n.866T>C | ||
| XR_001746264.2:n.872T>C | ||
| XR_001746265.2:n.669T>C | ||
| NM_001170639.2:c.547T>C | NP_001164110.1:p.Phe183Leu | |
| NM_001039803.3:c.610T>C MANE Select | NP_001034892.1:p.Phe204Leu | |
| NM_001170640.2:c.501-524T>C | NP_001164111.1:n.501-524T>C | |
| NM_012119.5:c.547T>C | NP_036251.2:p.Phe183Leu | |
| NM_178432.4:c.586T>C | NP_848519.1:p.Phe196Leu |