Linked Data
dbSNP Id:
rs749107118
ExAC:
12:121174967 C / CA
gnomAD v2:
12-121174967-C-CA
gnomAD v3:
12-120737164-C-CA
gnomAD v4:
12-120737164-C-CA
MyVariant Identifiers:
chr12:g.121174967_121174968insA (hg19)
chr12:g.120737164_120737165insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737165dup , CM000674.2:g.120737165dup | GRCh38 |
| NC_000012.11:g.121174968dup , CM000674.1:g.121174968dup | GRCh37 |
| NC_000012.10:g.119659351dup | NCBI36 |
| NG_007991.1:g.16398dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.360+30dup MANE Select | ENSP00000242592.4:n.360+30dup | |
| ENST00000242592.8:c.360+30dup | ENSP00000242592.4:n.360+30dup | |
| ENST00000411593.2:c.360+30dup | ENSP00000401045.2:n.360+30dup | |
| ENST00000539690.1:n.502dup | ||
| NM_000017.3:c.360+30dup | NP_000008.1:n.360+30dup | |
| NM_001302554.1:c.360+30dup | NP_001289483.1:n.360+30dup | |
| NM_000017.4:c.360+30dup MANE Select | NP_000008.1:n.360+30dup | |
| NM_001302554.2:c.360+30dup | NP_001289483.1:n.360+30dup |