Linked Data
dbSNP Id:
rs1975958985
gnomAD v3:
17-8015825-G-GAGTGTGCGT
gnomAD v4:
17-8015825-G-GAGTGTGCGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015825_8015826insAGTGTGCGT , CM000679.2:g.8015825_8015826insAGTGTGCGT | GRCh38 |
| NC_000017.10:g.7919143_7919144insAGTGTGCGT , CM000679.1:g.7919143_7919144insAGTGTGCGT | GRCh37 |
| NC_000017.9:g.7859868_7859869insAGTGTGCGT | NCBI36 |
| NG_009092.1:g.18156_18157insAGTGTGCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3027_3028insAGTGTGCGT MANE Select | ENSP00000254854.4:p.Met1009_Glu1010insSerValArg | |
| ENST00000254854.4:c.3027_3028insAGTGTGCGT | ENSP00000254854.4:p.Met1009_Glu1010insSerValArg | |
| NM_000180.3:c.3027_3028insAGTGTGCGT | NP_000171.1:p.Met1009_Glu1010insSerValArg | |
| XM_011523816.1:c.3027_3028insAGTGTGCGT | XP_011522118.1:p.Met1009_Glu1010insSerValArg | |
| NM_000180.4:c.3027_3028insAGTGTGCGT MANE Select | NP_000171.1:p.Met1009_Glu1010insSerValArg |