Linked Data
dbSNP Id:
rs2077768435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990449_45990458dup , CM000683.2:g.45990449_45990458dup | GRCh38 |
| NC_000021.8:g.47410363_47410372dup , CM000683.1:g.47410363_47410372dup | GRCh37 |
| NC_000021.7:g.46234791_46234800dup | NCBI36 |
| NG_008674.1:g.13701_13710dup , LRG_475:g.13701_13710dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+27_1002+36dup MANE Select | ENSP00000355180.3:n.1002+27_1002+36dup | |
| ENST00000361866.7:c.1002+27_1002+36dup | ENSP00000355180.3:n.1002+27_1002+36dup | |
| ENST00000612273.1:c.1002+27_1002+36dup | ENSP00000483630.1:n.1002+27_1002+36dup | |
| NM_001848.2:c.1002+27_1002+36dup , LRG_475t1:c.1002+27_1002+36dup | NP_001839.2:n.1002+27_1002+36dup | |
| NM_001848.3:c.1002+27_1002+36dup MANE Select | NP_001839.2:n.1002+27_1002+36dup |