Linked Data
dbSNP Id:
rs563706099
ExAC:
7:30492210 A / G
gnomAD v2:
7-30492210-A-G
gnomAD v3:
7-30452594-A-G
gnomAD v4:
7-30452594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30452594A>G , CM000669.2:g.30452594A>G | GRCh38 |
| NC_000007.13:g.30492210A>G , CM000669.1:g.30492210A>G | GRCh37 |
| NC_000007.12:g.30458735A>G | NCBI36 |
| NG_013025.1:g.31184T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222823.9:c.823T>C MANE Select | ENSP00000222823.4:p.Phe275Leu | |
| ENST00000222823.8:c.823T>C | ENSP00000222823.4:p.Phe275Leu | |
| ENST00000434755.5:c.823T>C | ENSP00000416946.1:p.Phe275Leu | |
| NM_006092.2:c.823T>C | NP_006083.1:p.Phe275Leu | |
| XM_005249568.1:c.823T>C | XP_005249625.1:p.Phe275Leu | |
| XM_005249572.1:c.823T>C | XP_005249629.1:p.Phe275Leu | |
| XM_005249576.1:c.79T>C | XP_005249633.1:p.Phe27Leu | |
| XM_006715633.2:c.823T>C | XP_006715696.1:p.Phe275Leu | |
| XM_011515079.1:c.823T>C | XP_011513381.1:p.Phe275Leu | |
| XM_011515080.1:c.823T>C | XP_011513382.1:p.Phe275Leu | |
| XM_011515081.1:c.823T>C | XP_011513383.1:p.Phe275Leu | |
| XM_011515082.1:c.823T>C | XP_011513384.1:p.Phe275Leu | |
| XM_011515083.1:c.823T>C | XP_011513385.1:p.Phe275Leu | |
| XM_011515084.1:c.823T>C | XP_011513386.1:p.Phe275Leu | |
| XM_011515085.1:c.823T>C | XP_011513387.1:p.Phe275Leu | |
| XM_011515086.1:c.823T>C | XP_011513388.1:p.Phe275Leu | |
| XM_011515087.1:c.823T>C | XP_011513389.1:p.Phe275Leu | |
| XM_011515088.1:c.823T>C | XP_011513390.1:p.Phe275Leu | |
| XR_926907.1:n.1401T>C | ||
| XR_926908.1:n.1401T>C | ||
| XR_926909.1:n.1401T>C | ||
| XR_926910.1:n.1401T>C | ||
| NM_001354849.1:c.823T>C | NP_001341778.1:p.Phe275Leu | |
| NM_006092.3:c.823T>C | NP_006083.1:p.Phe275Leu | |
| NR_149002.1:n.1435T>C | ||
| XM_011515080.2:c.823T>C | XP_011513382.1:p.Phe275Leu | |
| XM_011515081.2:c.823T>C | XP_011513383.1:p.Phe275Leu | |
| XM_011515088.2:c.823T>C | XP_011513390.1:p.Phe275Leu | |
| XM_017011674.1:c.823T>C | XP_016867163.1:p.Phe275Leu | |
| XR_001744529.1:n.1401T>C | ||
| XR_001744530.1:n.1401T>C | ||
| XR_002956406.1:n.1349T>C | ||
| XR_926908.2:n.1401T>C | ||
| XR_926909.2:n.1401T>C | ||
| NM_006092.4:c.823T>C MANE Select | NP_006083.1:p.Phe275Leu | |
| NM_001354849.2:c.823T>C | NP_001341778.1:p.Phe275Leu | |
| NR_149002.2:n.1353T>C |