Linked Data
ClinVar Variation Id:
97578
dbSNP Id:
rs76914224
ExAC:
12:110017618 G / A
gnomAD v2:
12-110017618-G-A
gnomAD v3:
12-109579813-G-A
gnomAD v4:
12-109579813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109579813G>A , CM000674.2:g.109579813G>A | GRCh38 |
| NC_000012.11:g.110017618G>A , CM000674.1:g.110017618G>A | GRCh37 |
| NC_000012.10:g.108502001G>A | NCBI36 |
| NG_007702.1:g.11119G>A , LRG_156:g.11119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-92+5940G>A | ENSP00000439134.1:n.-92+5940G>A | |
| ENST00000546277.6:c.238G>A | ENSP00000438153.2:p.Val80Ile | |
| ENST00000636529.2:n.78+4913G>A | ||
| ENST00000697195.1:c.*2G>A | ENSP00000513181.1:n.*2G>A | |
| ENST00000697196.1:c.238G>A | ENSP00000513182.1:p.Val80Ile | |
| ENST00000228510.8:c.238G>A MANE Select | ENSP00000228510.3:p.Val80Ile | |
| ENST00000636529.1:c.64+4913G>A | ||
| ENST00000636996.1:c.220-1582G>A | ||
| ENST00000228510.7:c.238G>A | ENSP00000228510.3:p.Val80Ile | |
| ENST00000392727.7:c.238G>A | ENSP00000376487.3:p.Val80Ile | |
| ENST00000447878.6:c.226+3668G>A | ENSP00000415555.2:n.226+3668G>A | |
| ENST00000535044.1:n.471+3668G>A | ||
| ENST00000537237.5:c.*2G>A | ENSP00000445382.1:n.*2G>A | |
| ENST00000539335.5:c.238G>A | ENSP00000440379.1:p.Val80Ile | |
| ENST00000539575.4:c.238G>A | ENSP00000443551.2:p.Val80Ile | |
| ENST00000539696.5:c.-92+5940G>A | ENSP00000439134.1:n.-92+5940G>A | |
| ENST00000545774.5:c.226+3668G>A | ENSP00000443978.1:n.226+3668G>A | |
| ENST00000546277.5:c.238G>A | ENSP00000438153.1:p.Val80Ile | |
| ENST00000625889.2:c.238G>A | ENSP00000486846.1:p.Val80Ile | |
| ENST00000629016.2:c.226+3668G>A | ENSP00000486804.1:n.226+3668G>A | |
| NM_000431.3:c.238G>A | NP_000422.1:p.Val80Ile | |
| NM_001114185.2:c.238G>A | NP_001107657.1:p.Val80Ile | |
| NM_001301182.1:c.238G>A | NP_001288111.1:p.Val80Ile | |
| XM_011538372.1:c.238G>A | XP_011536674.1:p.Val80Ile | |
| XM_017019313.2:c.238G>A | XP_016874802.1:p.Val80Ile | |
| XM_017019314.1:c.238G>A | XP_016874803.1:p.Val80Ile | |
| XM_024448982.1:c.238G>A | XP_024304750.1:p.Val80Ile | |
| NM_000431.4:c.238G>A MANE Select | NP_000422.1:p.Val80Ile | |
| NM_001114185.3:c.238G>A | NP_001107657.1:p.Val80Ile | |
| NM_001301182.2:c.238G>A | NP_001288111.1:p.Val80Ile |