Linked Data
ClinVar Variation Id:
3060928
ClinVar RCV Id:
RCV003982440
dbSNP Id:
rs10954361
ExAC:
7:131815343 G / A
gnomAD v2:
7-131815343-G-A
gnomAD v3:
7-132130584-G-A
gnomAD v4:
7-132130584-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.132130584G>A , CM000669.2:g.132130584G>A | GRCh38 |
| NC_000007.13:g.131815343G>A , CM000669.1:g.131815343G>A | GRCh37 |
| NC_000007.12:g.131465883G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321063.9:c.5590-10C>T MANE Select | ENSP00000323194.4:n.5590-10C>T | |
| ENST00000321063.8:c.5590-10C>T | ENSP00000323194.4:n.5590-10C>T | |
| ENST00000359827.7:c.5590-10C>T | ENSP00000352882.3:n.5590-10C>T | |
| NM_020911.1:c.5590-10C>T | NP_065962.1:n.5590-10C>T | |
| XM_005250686.3:c.5590-10C>T | XP_005250743.1:n.5590-10C>T | |
| XM_006716171.2:c.5590-10C>T | XP_006716234.1:n.5590-10C>T | |
| XM_005250686.5:c.5590-10C>T | XP_005250743.1:n.5590-10C>T | |
| XM_006716171.4:c.5590-10C>T | XP_006716234.1:n.5590-10C>T | |
| XM_017012779.1:c.5389-10C>T | XP_016868268.1:n.5389-10C>T | |
| NM_001393897.1:c.5590-10C>T | NP_001380826.1:n.5590-10C>T | |
| NM_020911.2:c.5590-10C>T MANE Select | NP_065962.1:n.5590-10C>T |