Linked Data
ClinVar Variation Id:
2465734
ClinVar RCV Id:
RCV004262853
dbSNP Id:
rs549007337
ExAC:
11:72946144 G / A
gnomAD v2:
11-72946144-G-A
gnomAD v3:
11-73235099-G-A
gnomAD v4:
11-73235099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73235099G>A , CM000673.2:g.73235099G>A | GRCh38 |
| NC_000011.9:g.72946144G>A , CM000673.1:g.72946144G>A | GRCh37 |
| NC_000011.8:g.72623792G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393597.7:c.940G>A MANE Select | ENSP00000377222.2:p.Val314Ile | |
| ENST00000311131.6:c.940G>A | ENSP00000310305.2:p.Val314Ile | |
| ENST00000393596.2:c.940G>A | ENSP00000377221.2:p.Val314Ile | |
| ENST00000393597.6:c.940G>A | ENSP00000377222.2:p.Val314Ile | |
| NM_002564.3:c.940G>A | NP_002555.3:p.Val314Ile | |
| NM_176071.2:c.940G>A | NP_788085.2:p.Val314Ile | |
| NM_176072.2:c.940G>A | NP_788086.2:p.Val314Ile | |
| XM_005274019.3:c.940G>A | XP_005274076.1:p.Val314Ile | |
| XM_005274020.3:c.940G>A | XP_005274077.1:p.Val314Ile | |
| XM_005274021.3:c.940G>A | XP_005274078.1:p.Val314Ile | |
| XM_011545074.1:c.940G>A | XP_011543376.1:p.Val314Ile | |
| XM_005274019.4:c.940G>A | XP_005274076.1:p.Val314Ile | |
| XM_005274020.4:c.940G>A | XP_005274077.1:p.Val314Ile | |
| XM_005274021.4:c.940G>A | XP_005274078.1:p.Val314Ile | |
| XM_011545074.2:c.940G>A | XP_011543376.1:p.Val314Ile | |
| XM_017017839.1:c.940G>A | XP_016873328.1:p.Val314Ile | |
| XR_001747890.1:n.1292G>A | ||
| XR_001747891.1:n.1292G>A | ||
| XR_001747892.1:n.1292G>A | ||
| NM_002564.4:c.940G>A MANE Select | NP_002555.4:p.Val314Ile | |
| NM_176071.3:c.940G>A | NP_788085.3:p.Val314Ile | |
| NM_176072.3:c.940G>A | NP_788086.3:p.Val314Ile |