Linked Data
dbSNP Id:
rs1672506624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85589292_85589295del , CM000664.2:g.85589292_85589295del | GRCh38 |
| NC_000002.11:g.85816415_85816418del , CM000664.1:g.85816415_85816418del | GRCh37 |
| NC_000002.10:g.85669926_85669929del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306384.5:c.4-2433_4-2430del MANE Select | ENSP00000305647.4:n.4-2433_4-2430del | |
| ENST00000306384.4:c.4-2433_4-2430del | ENSP00000305647.4:n.4-2433_4-2430del | |
| NM_006634.2:c.4-2433_4-2430del | NP_006625.1:n.4-2433_4-2430del | |
| NM_006634.3:c.4-2433_4-2430del MANE Select | NP_006625.1:n.4-2433_4-2430del |