Linked Data
ClinVar Variation Id:
17562
dbSNP Id:
rs121909579
ExAC:
3:148897374 C / T
gnomAD v2:
3-148897374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149179587C>T , CM000665.2:g.149179587C>T | GRCh38 |
| NC_000003.11:g.148897374C>T , CM000665.1:g.148897374C>T | GRCh37 |
| NC_000003.10:g.150380064C>T | NCBI36 |
| NG_011800.1:g.47459G>A | |
| NG_011800.2:g.47459G>A | |
| NG_011800.3:g.47459G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.2630G>A MANE Select | ENSP00000264613.6:p.Trp877Ter | |
| ENST00000264613.10:c.2630G>A | ENSP00000264613.6:p.Trp877Ter | |
| ENST00000460674.5:n.547G>A | ||
| ENST00000463556.5:n.152G>A | ||
| ENST00000479771.5:c.35G>A | ENSP00000420367.1:p.Trp12Ter | |
| ENST00000481169.5:c.2417G>A | ENSP00000418773.1:p.Trp806Ter | |
| ENST00000490639.5:n.2662G>A | ||
| ENST00000494544.1:c.1979G>A | ENSP00000420545.1:p.Trp660Ter | |
| NM_000096.3:c.2630G>A | NP_000087.1:p.Trp877Ter | |
| NR_046371.1:n.2670G>A | ||
| XM_006713499.2:c.2630G>A | XP_006713562.1:p.Trp877Ter | |
| XM_006713500.2:c.2630G>A | XP_006713563.1:p.Trp877Ter | |
| XM_006713501.2:c.2630G>A | XP_006713564.1:p.Trp877Ter | |
| XM_006713502.2:c.2630G>A | XP_006713565.1:p.Trp877Ter | |
| XM_011512435.1:c.2630G>A | XP_011510737.1:p.Trp877Ter | |
| XR_427361.2:n.2888G>A | ||
| XM_006713499.3:c.2630G>A | XP_006713562.1:p.Trp877Ter | |
| XM_006713500.4:c.2630G>A | XP_006713563.1:p.Trp877Ter | |
| XM_006713501.3:c.2630G>A | XP_006713564.1:p.Trp877Ter | |
| XM_011512435.2:c.2630G>A | XP_011510737.1:p.Trp877Ter | |
| XM_017005734.2:c.2630G>A | XP_016861223.1:p.Trp877Ter | |
| XM_017005735.2:c.2630G>A | XP_016861224.1:p.Trp877Ter | |
| XR_427361.3:n.2846G>A | ||
| NM_000096.4:c.2630G>A MANE Select | NP_000087.2:p.Trp877Ter | |
| NR_046371.2:n.2454G>A |