Linked Data
dbSNP Id:
rs1591816912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196986_21196987dup , CM000674.2:g.21196986_21196987dup | GRCh38 |
| NC_000012.11:g.21349920_21349921dup , CM000674.1:g.21349920_21349921dup | GRCh37 |
| NC_000012.10:g.21241187_21241188dup | NCBI36 |
| NG_011745.1:g.70793_70794dup , LRG_1022:g.70793_70794dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.768_769dup MANE Select | ENSP00000256958.2:p.Ala257GlufsTer? | |
| ENST00000256958.2:c.768_769dup | ENSP00000256958.2:p.Ala257GlufsTer? | |
| NM_006446.4:c.768_769dup , LRG_1022t1:c.768_769dup | NP_006437.3:p.Ala257GlufsTer? | |
| NM_006446.5:c.768_769dup MANE Select | NP_006437.3:p.Ala257GlufsTer? |