Linked Data
dbSNP Id:
rs750712461
ExAC:
13:31843366 A / G
gnomAD v2:
13-31843366-A-G
gnomAD v4:
13-31269229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31269229A>G , CM000675.2:g.31269229A>G | GRCh38 |
| NC_000013.10:g.31843366A>G , CM000675.1:g.31843366A>G | GRCh37 |
| NC_000013.9:g.30741366A>G | NCBI36 |
| NG_011732.1:g.74255A>G | |
| NG_011732.2:g.74255A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343307.5:c.612A>G MANE Select | ENSP00000343002.4:p.Leu204= | |
| ENST00000343307.4:c.612A>G | ENSP00000343002.4:p.Leu204= | |
| ENST00000461652.2:n.227A>G | ||
| NM_194318.3:c.612A>G | NP_919299.3:p.Leu204= | |
| XM_006719768.2:c.555A>G | XP_006719831.1:p.Leu185= | |
| XM_011534936.1:c.612A>G | XP_011533238.1:p.Leu204= | |
| XM_011534937.1:c.612A>G | XP_011533239.1:p.Leu204= | |
| XM_011534938.1:c.465A>G | XP_011533240.1:p.Leu155= | |
| XR_941500.1:n.711A>G | ||
| XR_941501.1:n.711A>G | ||
| XM_006719768.3:c.555A>G | XP_006719831.1:p.Leu185= | |
| XM_011534938.2:c.465A>G | XP_011533240.1:p.Leu155= | |
| XM_017020395.1:c.465A>G | XP_016875884.1:p.Leu155= | |
| NM_194318.4:c.612A>G MANE Select | NP_919299.3:p.Leu204= |