Linked Data
dbSNP Id:
rs1881579518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312433_21312435dup , CM000676.2:g.21312433_21312435dup | GRCh38 |
| NC_000014.8:g.21780592_21780594dup , CM000676.1:g.21780592_21780594dup | GRCh37 |
| NC_000014.7:g.20850432_20850434dup | NCBI36 |
| NG_008933.1:g.29457_29459dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1078_1080dup MANE Select | ENSP00000382895.2:p.Phe360_Gln361insPhe | |
| ENST00000400017.6:c.1078_1080dup | ENSP00000382895.2:p.Phe360_Gln361insPhe | |
| ENST00000556336.5:c.997_999dup | ENSP00000450445.1:p.Phe333_Gln334insPhe | |
| ENST00000557771.5:c.997_999dup | ENSP00000451219.1:p.Phe333_Gln334insPhe | |
| NM_020366.3:c.1078_1080dup | NP_065099.3:p.Phe360_Gln361insPhe | |
| XM_011536983.1:c.1045_1047dup | XP_011535285.1:p.Phe349_Gln350insPhe | |
| NM_020366.4:c.1078_1080dup MANE Select | NP_065099.3:p.Phe360_Gln361insPhe |