Linked Data
dbSNP Id:
rs1363471772
gnomAD v2:
3-41925204-G-GT
gnomAD v3:
3-41883712-G-GT
gnomAD v4:
3-41883712-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.41883715dup , CM000665.2:g.41883715dup | GRCh38 |
| NC_000003.11:g.41925207dup , CM000665.1:g.41925207dup | GRCh37 |
| NC_000003.10:g.41900211dup | NCBI36 |
| NG_051047.1:g.84308dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301831.9:c.1656+161dup MANE Select | ENSP00000301831.4:n.1656+161dup | |
| ENST00000301831.8:c.1656+161dup | ENSP00000301831.4:n.1656+161dup | |
| ENST00000420927.5:c.1656+161dup | ENSP00000412187.1:n.1656+161dup | |
| NM_017886.2:c.1656+161dup | NP_060356.2:n.1656+161dup | |
| XM_005265261.3:c.1653+161dup | XP_005265318.1:n.1653+161dup | |
| XM_006713215.2:c.1299+161dup | XP_006713278.1:n.1299+161dup | |
| XM_011533872.1:c.1656+161dup | XP_011532174.1:n.1656+161dup | |
| XM_011533873.1:c.1656+161dup | XP_011532175.1:n.1656+161dup | |
| XM_011533874.1:c.1656+161dup | XP_011532176.1:n.1656+161dup | |
| XM_011533875.1:c.1656+161dup | XP_011532177.1:n.1656+161dup | |
| XM_011533876.1:c.1656+161dup | XP_011532178.1:n.1656+161dup | |
| XM_011533877.1:c.867+161dup | XP_011532179.1:n.867+161dup | |
| XM_011533878.1:c.1656+161dup | XP_011532180.1:n.1656+161dup | |
| XM_011533879.1:c.516+161dup | XP_011532181.1:n.516+161dup | |
| XR_427279.2:n.2573+161dup | ||
| NM_001322500.1:c.1656+161dup | NP_001309429.1:n.1656+161dup | |
| NM_001322501.1:c.750+161dup | NP_001309430.1:n.750+161dup | |
| NM_017886.3:c.1656+161dup | NP_060356.2:n.1656+161dup | |
| NR_136342.1:n.2059+161dup | ||
| NM_017886.4:c.1656+161dup MANE Select | NP_060356.2:n.1656+161dup | |
| NM_001322500.2:c.1656+161dup | NP_001309429.1:n.1656+161dup | |
| NM_001322501.2:c.750+161dup | NP_001309430.1:n.750+161dup | |
| NR_136342.2:n.1722+161dup |