Linked Data
dbSNP Id:
rs1975958480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015821_8015822del , CM000679.2:g.8015821_8015822del | GRCh38 |
| NC_000017.10:g.7919139_7919140del , CM000679.1:g.7919139_7919140del | GRCh37 |
| NC_000017.9:g.7859864_7859865del | NCBI36 |
| NG_009092.1:g.18152_18153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.3023_3024del MANE Select | ENSP00000254854.4:p.Arg1008HisfsTer? | |
| ENST00000254854.4:c.3023_3024del | ENSP00000254854.4:p.Arg1008HisfsTer? | |
| NM_000180.3:c.3023_3024del | NP_000171.1:p.Arg1008HisfsTer? | |
| XM_011523816.1:c.3023_3024del | XP_011522118.1:p.Arg1008HisfsTer? | |
| NM_000180.4:c.3023_3024del MANE Select | NP_000171.1:p.Arg1008HisfsTer? |