Linked Data
ClinVar Variation Id:
17714
ClinVar RCV Id:
RCV000019288
dbSNP Id:
rs1800582
ExAC:
4:145040839 C / T
gnomAD v2:
4-145040839-C-T
gnomAD v3:
4-144119686-C-T
gnomAD v4:
4-144119686-C-T
PubMed:
PMID:8245024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144119686C>T , CM000666.2:g.144119686C>T | GRCh38 |
| NC_000004.11:g.145040839C>T , CM000666.1:g.145040839C>T | GRCh37 |
| NC_000004.10:g.145260289C>T | NCBI36 |
| NG_007470.3:g.26066G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535709.6:c.226G>A | ENSP00000445398.2:p.Gly76Arg | |
| ENST00000641688.3:c.232G>A MANE Select | ENSP00000493142.2:p.Gly78Arg | |
| ENST00000642295.1:c.232G>A | ENSP00000496079.1:p.Gly78Arg | |
| ENST00000642713.1:c.154G>A | ENSP00000494092.1:p.Gly52Arg | |
| ENST00000642738.1:c.133G>A | ENSP00000494322.1:p.Gly45Arg | |
| ENST00000643148.1:c.38-2747G>A | ENSP00000495505.1:n.38-2747G>A | |
| ENST00000643254.1:n.77-4919G>A | ||
| ENST00000646447.1:c.154G>A | ENSP00000495922.1:p.Gly52Arg | |
| ENST00000324022.14:c.133G>A | ENSP00000324483.10:p.Gly45Arg | |
| ENST00000360771.8:c.232G>A | ENSP00000354003.4:p.Gly78Arg | |
| ENST00000503627.2:c.136+804G>A | ENSP00000421243.1:n.136+804G>A | |
| ENST00000504786.5:c.136+804G>A | ENSP00000425549.1:n.136+804G>A | |
| ENST00000508337.1:c.*186G>A | ENSP00000425719.1:n.*186G>A | |
| ENST00000509346.5:n.194+804G>A | ||
| ENST00000512064.5:c.232G>A | ENSP00000426130.1:p.Glu78Lys | |
| ENST00000512789.5:c.38-934G>A | ENSP00000425193.1:n.38-934G>A | |
| ENST00000514603.1:n.290G>A | ||
| ENST00000535709.5:c.226G>A | ENSP00000445398.2:p.Gly76Arg | |
| ENST00000616983.4:c.226G>A | ENSP00000478329.1:p.Gly76Arg | |
| NM_001308187.1:c.232G>A | NP_001295116.1:p.Glu78Lys | |
| NM_001308190.1:c.133G>A | NP_001295119.1:p.Gly45Arg | |
| NM_002099.6:c.232G>A | NP_002090.4:p.Gly78Arg | |
| NM_002099.7:c.232G>A | NP_002090.4:p.Gly78Arg | |
| XM_017008134.2:c.232G>A | XP_016863623.1:p.Gly78Arg | |
| XM_017008135.2:c.154G>A | XP_016863624.1:p.Gly52Arg | |
| XM_017008136.1:c.133G>A | XP_016863625.1:p.Gly45Arg | |
| XR_002959804.1:n.456+4457C>T | ||
| NM_002099.8:c.232G>A MANE Select | NP_002090.4:p.Gly78Arg | |
| NM_001308187.2:c.232G>A | NP_001295116.1:p.Glu78Lys | |
| NM_001308190.2:c.133G>A | NP_001295119.1:p.Gly45Arg |