Linked Data
dbSNP Id:
rs756529806
ExAC:
4:995974 G / GC
gnomAD v2:
4-995974-G-GC
gnomAD v3:
4-1002186-G-GC
gnomAD v4:
4-1002186-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002192dup , CM000666.2:g.1002192dup | GRCh38 |
| NC_000004.11:g.995980dup , CM000666.1:g.995980dup | GRCh37 |
| NC_000004.10:g.985980dup | NCBI36 |
| NG_008103.1:g.20196dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.972+31dup | ENSP00000247933.4:n.972+31dup | |
| ENST00000514224.2:c.972+31dup MANE Select | ENSP00000425081.2:n.972+31dup | |
| ENST00000652070.1:n.1028+31dup | ||
| ENST00000247933.8:c.972+31dup | ENSP00000247933.4:n.972+31dup | |
| ENST00000514224.1:c.576+31dup | ENSP00000425081.1:n.576+31dup | |
| ENST00000514698.5:n.1003dup | ||
| NM_000203.4:c.972+31dup | NP_000194.2:n.972+31dup | |
| NR_110313.1:n.1060+31dup | ||
| XM_006713882.2:c.576+31dup | XP_006713945.1:n.576+31dup | |
| XM_011513459.1:c.962dup | XP_011511761.1:p.Ala322GlyfsTer? | |
| XM_011513460.1:c.831+31dup | XP_011511762.1:n.831+31dup | |
| XM_011513461.1:c.765+31dup | XP_011511763.1:n.765+31dup | |
| XM_011513462.1:c.684+31dup | XP_011511764.1:n.684+31dup | |
| XM_011513463.1:c.684+31dup | XP_011511765.1:n.684+31dup | |
| XR_924947.1:n.1041+31dup | ||
| NM_000203.5:c.972+31dup MANE Select | NP_000194.2:n.972+31dup | |
| NM_001363576.1:c.576+31dup | NP_001350505.1:n.576+31dup | |
| XM_011513461.2:c.765+31dup | XP_011511763.1:n.765+31dup | |
| XM_017008163.1:c.12+31dup | XP_016863652.1:n.12+31dup |