Linked Data
dbSNP Id:
rs1351582395
gnomAD v2:
6-31324235-C-CG
gnomAD v3:
6-31356458-C-CG
gnomAD v4:
6-31356458-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356460dup , CM000668.2:g.31356460dup | GRCh38 |
| NC_000006.11:g.31324237dup , CM000668.1:g.31324237dup | GRCh37 |
| NC_000006.10:g.31432216dup | NCBI36 |
| NG_023187.1:g.5754dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1817-17dup | ||
| ENST00000481849.6:n.1817-17dup | ||
| ENST00000497377.6:n.1817-17dup | ||
| ENST00000640094.2:c.344-17dup | ENSP00000491275.2:n.344-17dup | |
| ENST00000696558.1:c.344-17dup | ENSP00000512716.1:n.344-17dup | |
| ENST00000696559.1:c.344-17dup | ENSP00000512717.1:n.344-17dup | |
| ENST00000696560.1:c.344-17dup | ENSP00000512718.1:n.344-17dup | |
| ENST00000696561.1:c.344-17dup | ENSP00000512719.1:n.344-17dup | |
| ENST00000696562.1:c.344-17dup | ENSP00000512720.1:n.344-17dup | |
| ENST00000412585.7:c.344-17dup MANE Select | ENSP00000399168.2:n.344-17dup | |
| ENST00000412585.6:c.344-17dup | ENSP00000399168.2:n.344-17dup | |
| ENST00000434333.1:c.377-17dup | ENSP00000405931.1:n.377-17dup | |
| ENST00000474381.1:n.219-17dup | ||
| ENST00000498007.1:n.593dup | ||
| NM_005514.6:c.344-17dup | NP_005505.2:n.344-17dup | |
| XM_011514556.1:c.377-17dup | XP_011512858.1:n.377-17dup | |
| XM_011514557.1:c.344-17dup | XP_011512859.1:n.344-17dup | |
| XR_926175.1:n.354-17dup | ||
| NM_005514.7:c.344-17dup | NP_005505.2:n.344-17dup | |
| NM_005514.8:c.344-17dup MANE Select | NP_005505.2:n.344-17dup |