Linked Data
ClinVar Variation Id:
1118897
ClinVar RCV Id:
RCV001448161
dbSNP Id:
rs928270448
gnomAD v2:
6-100057056-G-A
gnomAD v3:
6-99609180-G-A
gnomAD v4:
6-99609180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99609180G>A , CM000668.2:g.99609180G>A | GRCh38 |
| NC_000006.11:g.100057056G>A , CM000668.1:g.100057056G>A | GRCh37 |
| NC_000006.10:g.100163777G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.277-7G>A MANE Select | ENSP00000358217.5:n.277-7G>A | |
| ENST00000369214.2:c.305-7G>A | ENSP00000358216.2:n.305-7G>A | |
| ENST00000369215.4:c.277-7G>A | ENSP00000358217.4:n.277-7G>A | |
| NM_021620.3:c.277-7G>A | NP_067633.2:n.277-7G>A | |
| NM_021620.4:c.277-7G>A MANE Select | NP_067633.2:n.277-7G>A |