Linked Data
ClinVar Variation Id:
161361
ClinVar RCV Id:
RCV000148788
RCV000704053
RCV000990206
RCV000721251
RCV001266922
RCV002478416
RCV001795258
dbSNP Id:
rs377178986
ExAC:
19:39034060 C / A
gnomAD v2:
19-39034060-C-A
gnomAD v3:
19-38543420-C-A
gnomAD v4:
19-38543420-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543420C>A , CM000681.2:g.38543420C>A | GRCh38 |
| NC_000019.9:g.39034060C>A , CM000681.1:g.39034060C>A | GRCh37 |
| NC_000019.8:g.43725900C>A | NCBI36 |
| NG_008866.1:g.114721C>A , LRG_766:g.114721C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.173C>A | ||
| ENST00000689936.1:c.155C>A | ||
| ENST00000359596.8:c.11763C>A MANE Select | ENSP00000352608.2:p.Tyr3921Ter | |
| ENST00000355481.8:c.11748C>A | ENSP00000347667.3:p.Tyr3916Ter | |
| ENST00000359596.7:c.11763C>A | ENSP00000352608.2:p.Tyr3921Ter | |
| ENST00000360985.7:c.11745C>A | ENSP00000354254.4:p.Tyr3915Ter | |
| ENST00000593322.1:c.372C>A | ||
| ENST00000594335.5:c.5132C>A | ||
| NM_000540.2:c.11763C>A , LRG_766t1:c.11763C>A | NP_000531.2:p.Tyr3921Ter | |
| NM_001042723.1:c.11748C>A | NP_001036188.1:p.Tyr3916Ter | |
| XM_006723317.1:c.11745C>A | XP_006723380.1:p.Tyr3915Ter | |
| XM_006723319.1:c.11730C>A | XP_006723382.1:p.Tyr3910Ter | |
| XM_011527204.1:c.11760C>A | XP_011525506.1:p.Tyr3920Ter | |
| XM_011527205.1:c.11763C>A | XP_011525507.1:p.Tyr3921Ter | |
| XM_006723317.2:c.11745C>A | XP_006723380.1:p.Tyr3915Ter | |
| XM_006723319.2:c.11730C>A | XP_006723382.1:p.Tyr3910Ter | |
| XM_011527205.2:c.11763C>A | XP_011525507.1:p.Tyr3921Ter | |
| NM_000540.3:c.11763C>A MANE Select | NP_000531.2:p.Tyr3921Ter | |
| NM_001042723.2:c.11748C>A | NP_001036188.1:p.Tyr3916Ter |