Linked Data
ClinVar Variation Id:
381716
dbSNP Id:
rs776936158
ExAC:
3:148904436 C / T
gnomAD v2:
3-148904436-C-T
gnomAD v3:
3-149186649-C-T
gnomAD v4:
3-149186649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149186649C>T , CM000665.2:g.149186649C>T | GRCh38 |
| NC_000003.11:g.148904436C>T , CM000665.1:g.148904436C>T | GRCh37 |
| NC_000003.10:g.150387126C>T | NCBI36 |
| NG_011800.1:g.40397G>A | |
| NG_011800.2:g.40397G>A | |
| NG_011800.3:g.40397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.1948G>A MANE Select | ENSP00000264613.6:p.Gly650Arg | |
| ENST00000264613.10:c.1948G>A | ENSP00000264613.6:p.Gly650Arg | |
| ENST00000462336.5:n.322G>A | ||
| ENST00000481169.5:c.1865-1203G>A | ENSP00000418773.1:n.1865-1203G>A | |
| ENST00000489736.5:n.1173G>A | ||
| ENST00000490639.5:n.1980G>A | ||
| ENST00000494544.1:c.1297G>A | ENSP00000420545.1:p.Gly433Arg | |
| ENST00000497902.5:n.129G>A | ||
| NM_000096.3:c.1948G>A | NP_000087.1:p.Gly650Arg | |
| NR_046371.1:n.2118-1203G>A | ||
| XM_006713499.2:c.1948G>A | XP_006713562.1:p.Gly650Arg | |
| XM_006713500.2:c.1948G>A | XP_006713563.1:p.Gly650Arg | |
| XM_006713501.2:c.1948G>A | XP_006713564.1:p.Gly650Arg | |
| XM_006713502.2:c.1948G>A | XP_006713565.1:p.Gly650Arg | |
| XM_011512435.1:c.1948G>A | XP_011510737.1:p.Gly650Arg | |
| XR_427361.2:n.2206G>A | ||
| XM_006713499.3:c.1948G>A | XP_006713562.1:p.Gly650Arg | |
| XM_006713500.4:c.1948G>A | XP_006713563.1:p.Gly650Arg | |
| XM_006713501.3:c.1948G>A | XP_006713564.1:p.Gly650Arg | |
| XM_011512435.2:c.1948G>A | XP_011510737.1:p.Gly650Arg | |
| XM_017005734.2:c.1948G>A | XP_016861223.1:p.Gly650Arg | |
| XM_017005735.2:c.1948G>A | XP_016861224.1:p.Gly650Arg | |
| XR_427361.3:n.2164G>A | ||
| NM_000096.4:c.1948G>A MANE Select | NP_000087.2:p.Gly650Arg | |
| NR_046371.2:n.1902-1203G>A |