Linked Data
dbSNP Id:
rs1214742889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954128_19954129insA , CM000670.2:g.19954128_19954129insA | GRCh38 |
| NC_000008.10:g.19811639_19811640insA , CM000670.1:g.19811639_19811640insA | GRCh37 |
| NC_000008.9:g.19855919_19855920insA | NCBI36 |
| NG_008855.1:g.20058_20059insA | |
| NG_008855.2:g.57412_57413insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.550_551insA MANE Select | ENSP00000497642.1:p.Pro184HisfsTer5 | |
| ENST00000311322.8:c.550_551insA | ENSP00000309757.6:p.Pro184HisfsTer5 | |
| ENST00000520959.5:c.322_323insA | ENSP00000428496.1:p.Pro108HisfsTer5 | |
| NM_000237.2:c.550_551insA | NP_000228.1:p.Pro184HisfsTer5 | |
| NM_000237.3:c.550_551insA MANE Select | NP_000228.1:p.Pro184HisfsTer5 |