Linked Data
dbSNP Id:
rs1564209838
gnomAD v2:
9-136509253-G-A
gnomAD v3:
9-133644131-G-A
gnomAD v4:
9-133644131-G-A
MyVariant Identifiers:
chr9:g.136509253_136509254delinsAC (hg19)
chr9:g.133644131_133644132delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644131G>A , CM000671.2:g.133644131G>A | GRCh38 |
| NC_000009.11:g.136509253G>A , CM000671.1:g.136509253G>A | GRCh37 |
| NC_000009.10:g.135499074G>A | NCBI36 |
| NG_008645.1:g.12769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.922-87G>A MANE Select | ENSP00000376776.2:n.922-87G>A | |
| ENST00000393056.6:c.922-87G>A | ENSP00000376776.2:n.922-87G>A | |
| NM_000787.3:c.922-87G>A | NP_000778.3:n.922-87G>A | |
| NM_000787.4:c.922-87G>A MANE Select | NP_000778.3:n.922-87G>A |