Linked Data
ClinVar Variation Id:
432534
dbSNP Id:
rs1199412903
gnomAD v2:
2-165947801-C-T
gnomAD v4:
2-165091291-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165091291C>T , CM000664.2:g.165091291C>T | GRCh38 |
| NC_000002.11:g.165947801C>T , CM000664.1:g.165947801C>T | GRCh37 |
| NC_000002.10:g.165656047C>T | NCBI36 |
| NG_042289.1:g.117798G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.4811G>A | ENSP00000516211.1:p.Arg1604Gln | |
| ENST00000283254.12:c.4862G>A MANE Select | ENSP00000283254.7:p.Arg1621Gln | |
| ENST00000638473.1:c.*2703G>A | ENSP00000491552.1:n.*2703G>A | |
| ENST00000639244.1:c.4799G>A | ENSP00000492251.1:p.Arg1600Gln | |
| ENST00000640652.1:c.*1596G>A | ENSP00000492807.1:n.*1596G>A | |
| ENST00000658209.1:c.3071G>A | ENSP00000499598.1:n.3071G>A | |
| ENST00000283254.11:c.4862G>A | ENSP00000283254.7:p.Arg1621Gln | |
| ENST00000360093.7:c.4862G>A | ENSP00000353206.3:p.Arg1621Gln | |
| ENST00000409101.7:c.4715G>A | ENSP00000386726.3:p.Arg1572Gln | |
| NM_001081676.1:c.4715G>A | NP_001075145.1:p.Arg1572Gln | |
| NM_001081677.1:c.4715G>A | NP_001075146.1:p.Arg1572Gln | |
| NM_006922.3:c.4862G>A | NP_008853.3:p.Arg1621Gln | |
| XM_006712679.1:c.4862G>A | XP_006712742.1:p.Arg1621Gln | |
| XM_011511610.1:c.4862G>A | XP_011509912.1:p.Arg1621Gln | |
| XM_011511611.1:c.4862G>A | XP_011509913.1:p.Arg1621Gln | |
| XM_011511612.1:c.4811G>A | XP_011509914.1:p.Arg1604Gln | |
| XM_011511613.1:c.2972G>A | XP_011509915.1:p.Arg991Gln | |
| XM_011511610.3:c.4862G>A | XP_011509912.1:p.Arg1621Gln | |
| XM_011511613.3:c.2972G>A | XP_011509915.1:p.Arg991Gln | |
| XM_017004660.2:c.4862G>A | XP_016860149.1:p.Arg1621Gln | |
| XM_017004661.2:c.4811G>A | XP_016860150.1:p.Arg1604Gln | |
| XM_017004662.2:c.4724G>A | XP_016860151.1:p.Arg1575Gln | |
| XM_017004663.2:c.2972G>A | XP_016860152.1:p.Arg991Gln | |
| NM_006922.4:c.4862G>A MANE Select | NP_008853.3:p.Arg1621Gln | |
| NM_001081676.2:c.4715G>A | NP_001075145.1:p.Arg1572Gln | |
| NM_001081677.2:c.4715G>A | NP_001075146.1:p.Arg1572Gln |