Linked Data
dbSNP Id:
rs1212772476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117057_19117058insACA , CM000669.2:g.19117057_19117058insACA | GRCh38 |
| NC_000007.13:g.19156680_19156681insACA , CM000669.1:g.19156680_19156681insACA | GRCh37 |
| NC_000007.12:g.19123205_19123206insACA | NCBI36 |
| NG_008114.1:g.5615_5616insTGT | |
| NG_008114.2:g.5615_5616insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.264_265insTGT MANE Select | ENSP00000242261.5:p.Gly88_Gly89insCys | |
| ENST00000242261.5:c.264_265insTGT | ENSP00000242261.5:p.Gly88_Gly89insCys | |
| ENST00000354571.5:c.61_62insTGT | ||
| NM_000474.3:c.264_265insTGT | NP_000465.1:p.Gly88_Gly89insCys | |
| XM_011515496.1:c.264_265insTGT | XP_011513798.1:p.Gly88_Gly89insCys | |
| NR_149001.1:n.615_616insTGT | ||
| NM_000474.4:c.264_265insTGT MANE Select | NP_000465.1:p.Gly88_Gly89insCys | |
| NR_149001.2:n.579_580insTGT |