Linked Data
ClinVar Variation Id:
675066
ClinVar RCV Id:
RCV000834401
dbSNP Id:
rs62464631
ExAC:
7:94055885 G / A
gnomAD v2:
7-94055885-G-A
gnomAD v3:
7-94426573-G-A
gnomAD v4:
7-94426573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426573G>A , CM000669.2:g.94426573G>A | GRCh38 |
| NC_000007.13:g.94055885G>A , CM000669.1:g.94055885G>A | GRCh37 |
| NC_000007.12:g.93893821G>A | NCBI36 |
| NG_007405.1:g.37013G>A , LRG_2:g.37013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3105+43G>A MANE Select | ENSP00000297268.6:n.3105+43G>A | |
| ENST00000297268.10:c.3105+43G>A | ENSP00000297268.6:n.3105+43G>A | |
| ENST00000478215.1:n.707G>A | ||
| ENST00000481570.5:n.3121G>A | ||
| ENST00000488121.1:n.21+43G>A | ||
| ENST00000620463.1:c.3099+43G>A | ENSP00000477719.1:n.3099+43G>A | |
| NM_000089.3:c.3105+43G>A , LRG_2t1:c.3105+43G>A | NP_000080.2:n.3105+43G>A | |
| NM_000089.4:c.3105+43G>A MANE Select | NP_000080.2:n.3105+43G>A |