Linked Data
dbSNP Id:
rs2077769658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990486_45990487insTCC , CM000683.2:g.45990486_45990487insTCC | GRCh38 |
| NC_000021.8:g.47410400_47410401insTCC , CM000683.1:g.47410400_47410401insTCC | GRCh37 |
| NC_000021.7:g.46234828_46234829insTCC | NCBI36 |
| NG_008674.1:g.13738_13739insTCC , LRG_475:g.13738_13739insTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+64_1002+65insTCC MANE Select | ENSP00000355180.3:n.1002+64_1002+65insTCC | |
| ENST00000361866.7:c.1002+64_1002+65insTCC | ENSP00000355180.3:n.1002+64_1002+65insTCC | |
| ENST00000612273.1:c.1002+64_1002+65insTCC | ENSP00000483630.1:n.1002+64_1002+65insTCC | |
| NM_001848.2:c.1002+64_1002+65insTCC , LRG_475t1:c.1002+64_1002+65insTCC | NP_001839.2:n.1002+64_1002+65insTCC | |
| NM_001848.3:c.1002+64_1002+65insTCC MANE Select | NP_001839.2:n.1002+64_1002+65insTCC |