Linked Data
dbSNP Id:
rs1445790059
gnomAD v2:
7-44184967-T-TC
gnomAD v3:
7-44145368-T-TC
gnomAD v4:
7-44145368-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145373dup , CM000669.2:g.44145373dup | GRCh38 |
| NC_000007.13:g.44184972dup , CM000669.1:g.44184972dup | GRCh37 |
| NC_000007.12:g.44151497dup | NCBI36 |
| NG_008847.1:g.49055dup | |
| NG_008847.2:g.57802dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1252-89dup | ENSP00000379142.4:n.*1252-89dup | |
| ENST00000616242.5:c.*374-89dup | ENSP00000482149.2:n.*374-89dup | |
| ENST00000683378.1:n.480-89dup | ||
| ENST00000336642.9:c.288-89dup | ENSP00000338009.5:n.288-89dup | |
| ENST00000345378.7:c.1257-89dup | ENSP00000223366.2:n.1257-89dup | |
| ENST00000403799.8:c.1254-89dup MANE Select | ENSP00000384247.3:n.1254-89dup | |
| ENST00000671824.1:c.1317-89dup | ENSP00000500264.1:n.1317-89dup | |
| ENST00000672743.1:n.266-89dup | ||
| ENST00000673284.1:c.1254-89dup | ENSP00000499852.1:n.1254-89dup | |
| ENST00000336642.8:c.306-89dup | ENSP00000338009.4:n.306-89dup | |
| ENST00000345378.6:c.1257-89dup | ENSP00000223366.2:n.1257-89dup | |
| ENST00000395796.7:c.1251-89dup | ENSP00000379142.3:n.1251-89dup | |
| ENST00000403799.7:c.1254-89dup | ENSP00000384247.3:n.1254-89dup | |
| ENST00000437084.1:c.1203-89dup | ENSP00000402840.1:n.1203-89dup | |
| ENST00000459642.1:n.634-89dup | ||
| ENST00000616242.4:c.1251-89dup | ENSP00000482149.1:n.1251-89dup | |
| NM_000162.3:c.1254-89dup | NP_000153.1:n.1254-89dup | |
| NM_033507.1:c.1257-89dup | NP_277042.1:n.1257-89dup | |
| NM_033508.1:c.1251-89dup | NP_277043.1:n.1251-89dup | |
| NM_000162.4:c.1254-89dup | NP_000153.1:n.1254-89dup | |
| NM_001354800.1:c.1254-89dup | NP_001341729.1:n.1254-89dup | |
| NM_001354801.1:c.243-89dup | NP_001341730.1:n.243-89dup | |
| NM_001354802.1:c.114-89dup | NP_001341731.1:n.114-89dup | |
| NM_001354803.1:c.288-89dup | NP_001341732.1:n.288-89dup | |
| NM_033507.2:c.1257-89dup | NP_277042.1:n.1257-89dup | |
| NM_033508.2:c.1251-89dup | NP_277043.1:n.1251-89dup | |
| XM_024446707.1:c.114-89dup | XP_024302475.1:n.114-89dup | |
| NM_000162.5:c.1254-89dup MANE Select | NP_000153.1:n.1254-89dup | |
| NM_033507.3:c.1257-89dup | NP_277042.1:n.1257-89dup | |
| NM_033508.3:c.1251-89dup | NP_277043.1:n.1251-89dup | |
| NM_001354803.2:c.288-89dup | NP_001341732.1:n.288-89dup |