Linked Data
dbSNP Id:
rs2070042014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961878_19961886dup , CM000670.2:g.19961878_19961886dup | GRCh38 |
| NC_000008.10:g.19819389_19819397dup , CM000670.1:g.19819389_19819397dup | GRCh37 |
| NC_000008.9:g.19863669_19863677dup | NCBI36 |
| NG_008855.1:g.27808_27816dup | |
| NG_008855.2:g.65162_65170dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1323-237_1323-229dup MANE Select | ENSP00000497642.1:n.1323-237_1323-229dup | |
| ENST00000650478.1:c.263-237_263-229dup | ENSP00000497560.1:n.263-237_263-229dup | |
| ENST00000311322.8:c.1323-237_1323-229dup | ENSP00000309757.6:n.1323-237_1323-229dup | |
| NM_000237.2:c.1323-237_1323-229dup | NP_000228.1:n.1323-237_1323-229dup | |
| NM_000237.3:c.1323-237_1323-229dup MANE Select | NP_000228.1:n.1323-237_1323-229dup |