Linked Data
ClinVar Variation Id:
1514285
ClinVar RCV Id:
RCV002048224
dbSNP Id:
rs202172198
ExAC:
12:110023891 G / C
gnomAD v3:
12-109586086-G-C
gnomAD v4:
12-109586086-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109586086G>C , CM000674.2:g.109586086G>C | GRCh38 |
| NC_000012.11:g.110023891G>C , CM000674.1:g.110023891G>C | GRCh37 |
| NC_000012.10:g.108508274G>C | NCBI36 |
| NG_007702.1:g.17392G>C , LRG_156:g.17392G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-91-4760G>C | ENSP00000439134.1:n.-91-4760G>C | |
| ENST00000546277.6:c.592G>C | ENSP00000438153.2:p.Gly198Arg | |
| ENST00000636529.2:n.143G>C | ||
| ENST00000697195.1:c.*356G>C | ENSP00000513181.1:n.*356G>C | |
| ENST00000697196.1:c.592G>C | ENSP00000513182.1:p.Gly198Arg | |
| ENST00000228510.8:c.592G>C MANE Select | ENSP00000228510.3:p.Gly198Arg | |
| ENST00000636529.1:c.129G>C | ||
| ENST00000636996.1:c.440G>C | ||
| ENST00000228510.7:c.592G>C | ENSP00000228510.3:p.Gly198Arg | |
| ENST00000392727.7:c.436G>C | ENSP00000376487.3:p.Gly146Arg | |
| ENST00000447878.6:c.*39G>C | ENSP00000415555.2:n.*39G>C | |
| ENST00000535044.1:n.536G>C | ||
| ENST00000537237.5:c.*356G>C | ENSP00000445382.1:n.*356G>C | |
| ENST00000539575.4:c.592G>C | ENSP00000443551.2:p.Gly198Arg | |
| ENST00000539696.5:c.-91-4760G>C | ENSP00000439134.1:n.-91-4760G>C | |
| ENST00000545516.1:n.137G>C | ||
| ENST00000545774.5:c.*39G>C | ENSP00000443978.1:n.*39G>C | |
| ENST00000546277.5:c.592G>C | ENSP00000438153.1:p.Gly198Arg | |
| ENST00000625889.2:c.436G>C | ENSP00000486846.1:p.Gly146Arg | |
| ENST00000629016.2:c.*39G>C | ENSP00000486804.1:n.*39G>C | |
| NM_000431.3:c.592G>C | NP_000422.1:p.Gly198Arg | |
| NM_001114185.2:c.592G>C | NP_001107657.1:p.Gly198Arg | |
| NM_001301182.1:c.436G>C | NP_001288111.1:p.Gly146Arg | |
| XM_011538372.1:c.592G>C | XP_011536674.1:p.Gly198Arg | |
| XM_017019313.2:c.436G>C | XP_016874802.1:p.Gly146Arg | |
| XM_017019314.1:c.592G>C | XP_016874803.1:p.Gly198Arg | |
| XM_024448982.1:c.592G>C | XP_024304750.1:p.Gly198Arg | |
| NM_000431.4:c.592G>C MANE Select | NP_000422.1:p.Gly198Arg | |
| NM_001114185.3:c.592G>C | NP_001107657.1:p.Gly198Arg | |
| NM_001301182.2:c.436G>C | NP_001288111.1:p.Gly146Arg |