Linked Data
ClinVar Variation Id:
2942816
ClinVar RCV Id:
RCV003807982
dbSNP Id:
rs146594265
ExAC:
11:68675822 G / A
gnomAD v2:
11-68675822-G-A
gnomAD v3:
11-68908354-G-A
gnomAD v4:
11-68908354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908354G>A , CM000673.2:g.68908354G>A | GRCh38 |
| NC_000011.9:g.68675822G>A , CM000673.1:g.68675822G>A | GRCh37 |
| NC_000011.8:g.68432398G>A | NCBI36 |
| NG_007976.1:g.9504G>A , LRG_250:g.9504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.449+17G>A MANE Select | ENSP00000255078.4:n.449+17G>A | |
| ENST00000539224.2:c.412+17G>A | ||
| ENST00000674583.1:c.412+17G>A | ||
| ENST00000674597.1:c.260+17G>A | ||
| ENST00000674955.1:c.449+17G>A | ENSP00000502463.1:n.449+17G>A | |
| ENST00000675142.1:n.412+17G>A | ||
| ENST00000675469.1:c.325+17G>A | ||
| ENST00000675615.1:c.449+17G>A | ENSP00000502413.1:n.449+17G>A | |
| ENST00000675674.1:n.412+17G>A | ||
| ENST00000675873.1:c.412+17G>A | ||
| ENST00000676173.1:n.493+17G>A | ||
| ENST00000676228.1:c.449+17G>A | ENSP00000502375.1:n.449+17G>A | |
| ENST00000255078.7:c.449+17G>A | ENSP00000255078.3:n.449+17G>A | |
| ENST00000539224.1:c.449+17G>A | ENSP00000440465.1:n.449+17G>A | |
| ENST00000544541.1:c.*189+17G>A | ENSP00000443343.1:n.*189+17G>A | |
| NM_002180.2:c.449+17G>A , LRG_250t1:c.449+17G>A | NP_002171.2:n.449+17G>A | |
| XM_005273974.2:c.-563+17G>A | XP_005274031.1:n.-563+17G>A | |
| XM_005273976.1:c.449+17G>A | XP_005274033.1:n.449+17G>A | |
| XR_247198.1:n.551+17G>A | ||
| XR_949903.1:n.551+17G>A | ||
| XM_005273976.2:c.449+17G>A | XP_005274033.1:n.449+17G>A | |
| XM_017017669.2:c.-465+17G>A | XP_016873158.1:n.-465+17G>A | |
| XM_017017671.2:c.449+17G>A | XP_016873160.1:n.449+17G>A | |
| XR_949903.3:n.547+17G>A | ||
| NM_002180.3:c.449+17G>A MANE Select | NP_002171.2:n.449+17G>A |