Linked Data
dbSNP Id:
rs1016723570
gnomAD v2:
9-104348248-T-A
gnomAD v3:
9-101585966-T-A
gnomAD v4:
9-101585966-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101585966T>A , CM000671.2:g.101585966T>A | GRCh38 |
| NC_000009.11:g.104348248T>A , CM000671.1:g.104348248T>A | GRCh37 |
| NC_000009.10:g.103388069T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.2767-6606A>T MANE Select | ENSP00000355155.3:n.2767-6606A>T | |
| ENST00000361820.3:c.2767-6606A>T | ENSP00000355155.3:n.2767-6606A>T | |
| NM_133445.2:c.2767-6606A>T | NP_597702.2:n.2767-6606A>T | |
| NM_133445.3:c.2767-6606A>T MANE Select | NP_597702.2:n.2767-6606A>T |