Linked Data
dbSNP Id:
rs1567633147
gnomAD v2:
17-3427618-C-G
gnomAD v4:
17-3524324-C-G
MyVariant Identifiers:
chr17:g.3427618C>G (hg19)
chr17:g.3427618_3427621delinsGAAG (hg19)
chr17:g.3524324C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3524324C>G , CM000679.2:g.3524324C>G | GRCh38 |
| NC_000017.10:g.3427618C>G , CM000679.1:g.3427618C>G | GRCh37 |
| NC_000017.9:g.3374368C>G | NCBI36 |
| NG_032144.2:g.38672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.1617G>C MANE Select | ENSP00000461518.2:p.Leu539Phe | |
| ENST00000301365.8:c.1617G>C | ENSP00000301365.4:p.Leu539Phe | |
| ENST00000381913.8:c.899-20G>C | ||
| ENST00000571139.5:c.*1609G>C | ENSP00000458187.1:n.*1609G>C | |
| ENST00000572519.1:c.1617G>C | ENSP00000460215.1:p.Leu539Phe | |
| ENST00000573539.5:c.*1647-20G>C | ENSP00000458239.1:n.*1647-20G>C | |
| ENST00000576742.5:c.1617G>C | ENSP00000461518.1:p.Leu539Phe | |
| ENST00000577016.5:c.328+2530G>C | ||
| ENST00000616411.4:c.1569G>C | ENSP00000483947.1:p.Leu523Phe | |
| NM_001258205.1:c.1617G>C | NP_001245134.1:p.Leu539Phe | |
| NM_145068.3:c.1617G>C | NP_659505.1:p.Leu539Phe | |
| XM_011523693.1:c.1577+2530G>C | XP_011521995.1:n.1577+2530G>C | |
| XM_011523694.1:c.912G>C | XP_011521996.1:p.Leu304Phe | |
| XM_011523695.1:c.570G>C | XP_011521997.1:p.Leu190Phe | |
| XR_934004.1:n.1711-20G>C | ||
| NM_001258205.2:c.1617G>C | NP_001245134.1:p.Leu539Phe | |
| NM_145068.4:c.1617G>C MANE Select | NP_659505.1:p.Leu539Phe |