Linked Data
ClinVar Variation Id:
521552
dbSNP Id:
rs750451693
ExAC:
3:148927978 C / T
gnomAD v2:
3-148927978-C-T
gnomAD v3:
3-149210191-C-T
gnomAD v4:
3-149210191-C-T
COSMIC:
COSM1419842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149210191C>T , CM000665.2:g.149210191C>T | GRCh38 |
| NC_000003.11:g.148927978C>T , CM000665.1:g.148927978C>T | GRCh37 |
| NC_000003.10:g.150410668C>T | NCBI36 |
| NG_011800.1:g.16855G>A | |
| NG_011800.2:g.16855G>A | |
| NG_011800.3:g.16855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.583G>A MANE Select | ENSP00000264613.6:p.Gly195Arg | |
| ENST00000264613.10:c.583G>A | ENSP00000264613.6:p.Gly195Arg | |
| ENST00000481169.5:c.583G>A | ENSP00000418773.1:p.Gly195Arg | |
| ENST00000490639.5:n.615G>A | ||
| NM_000096.3:c.583G>A | NP_000087.1:p.Gly195Arg | |
| NR_046371.1:n.836G>A | ||
| XM_006713499.2:c.583G>A | XP_006713562.1:p.Gly195Arg | |
| XM_006713500.2:c.583G>A | XP_006713563.1:p.Gly195Arg | |
| XM_006713501.2:c.583G>A | XP_006713564.1:p.Gly195Arg | |
| XM_006713502.2:c.583G>A | XP_006713565.1:p.Gly195Arg | |
| XM_011512435.1:c.583G>A | XP_011510737.1:p.Gly195Arg | |
| XR_427361.2:n.841G>A | ||
| XM_006713499.3:c.583G>A | XP_006713562.1:p.Gly195Arg | |
| XM_006713500.4:c.583G>A | XP_006713563.1:p.Gly195Arg | |
| XM_006713501.3:c.583G>A | XP_006713564.1:p.Gly195Arg | |
| XM_011512435.2:c.583G>A | XP_011510737.1:p.Gly195Arg | |
| XM_017005734.2:c.583G>A | XP_016861223.1:p.Gly195Arg | |
| XM_017005735.2:c.583G>A | XP_016861224.1:p.Gly195Arg | |
| XR_427361.3:n.799G>A | ||
| NM_000096.4:c.583G>A MANE Select | NP_000087.2:p.Gly195Arg | |
| NR_046371.2:n.620G>A |