Linked Data
ClinVar Variation Id:
97616
dbSNP Id:
rs104895339
ExAC:
12:110028646 G / A
gnomAD v2:
12-110028646-G-A
gnomAD v3:
12-109590841-G-A
gnomAD v4:
12-109590841-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109590841G>A , CM000674.2:g.109590841G>A | GRCh38 |
| NC_000012.11:g.110028646G>A , CM000674.1:g.110028646G>A | GRCh37 |
| NC_000012.10:g.108513029G>A | NCBI36 |
| NG_007702.1:g.22147G>A , LRG_156:g.22147G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-91-5G>A | ENSP00000439134.1:n.-91-5G>A | |
| ENST00000546277.6:c.748G>A | ENSP00000438153.2:p.Val250Ile | |
| ENST00000636529.2:n.387G>A | ||
| ENST00000697195.1:c.*512G>A | ENSP00000513181.1:n.*512G>A | |
| ENST00000697196.1:c.836G>A | ENSP00000513182.1:p.Arg279His | |
| ENST00000697197.1:n.2398G>A | ||
| ENST00000228510.8:c.748G>A MANE Select | ENSP00000228510.3:p.Val250Ile | |
| ENST00000636529.1:c.373G>A | ||
| ENST00000636996.1:c.596G>A | ||
| ENST00000228510.7:c.748G>A | ENSP00000228510.3:p.Val250Ile | |
| ENST00000392727.7:c.592G>A | ENSP00000376487.3:p.Val198Ile | |
| ENST00000447878.6:c.*195G>A | ENSP00000415555.2:n.*195G>A | |
| ENST00000537237.5:c.*442-400G>A | ENSP00000445382.1:n.*442-400G>A | |
| ENST00000539575.4:c.748G>A | ENSP00000443551.2:p.Val250Ile | |
| ENST00000539696.5:c.-91-5G>A | ENSP00000439134.1:n.-91-5G>A | |
| ENST00000540353.1:n.2981G>A | ||
| ENST00000625889.2:c.592G>A | ENSP00000486846.1:p.Val198Ile | |
| ENST00000629016.2:c.*195G>A | ENSP00000486804.1:n.*195G>A | |
| NM_000431.3:c.748G>A | NP_000422.1:p.Val250Ile | |
| NM_001114185.2:c.748G>A | NP_001107657.1:p.Val250Ile | |
| NM_001301182.1:c.592G>A | NP_001288111.1:p.Val198Ile | |
| XM_011538372.1:c.748G>A | XP_011536674.1:p.Val250Ile | |
| XM_017019313.2:c.592G>A | XP_016874802.1:p.Val198Ile | |
| XM_017019314.1:c.748G>A | XP_016874803.1:p.Val250Ile | |
| XM_024448982.1:c.748G>A | XP_024304750.1:p.Val250Ile | |
| NM_000431.4:c.748G>A MANE Select | NP_000422.1:p.Val250Ile | |
| NM_001114185.3:c.748G>A | NP_001107657.1:p.Val250Ile | |
| NM_001301182.2:c.592G>A | NP_001288111.1:p.Val198Ile |