Linked Data
dbSNP Id:
rs2147209759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672011_18672012insTT , CM000685.2:g.18672011_18672012insTT | GRCh38 |
| NC_000023.10:g.18690131_18690132insTT , CM000685.1:g.18690131_18690132insTT | GRCh37 |
| NC_000023.9:g.18600052_18600053insTT | NCBI36 |
| NG_008659.3:g.10437_10438insAA , LRG_702:g.10437_10438insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.52+5_52+6insAA MANE Select | ENSP00000369320.3:n.52+5_52+6insAA | |
| ENST00000379984.3:c.52+5_52+6insAA | ENSP00000369320.3:n.52+5_52+6insAA | |
| NM_000330.3:c.52+5_52+6insAA , LRG_702t1:c.52+5_52+6insAA | NP_000321.1:n.52+5_52+6insAA | |
| NM_000330.4:c.52+5_52+6insAA MANE Select | NP_000321.1:n.52+5_52+6insAA |