Linked Data
ClinVar Variation Id:
216117
ClinVar RCV Id:
RCV000196101
dbSNP Id:
rs863224519
gnomAD v2:
17-78071119-A-T
gnomAD v3:
17-80097320-A-T
gnomAD v4:
17-80097320-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80097320A>T , CM000679.2:g.80097320A>T | GRCh38 |
| NC_000017.10:g.78071119A>T , CM000679.1:g.78071119A>T | GRCh37 |
| NC_000017.9:g.75685714A>T | NCBI36 |
| NG_009822.1:g.765A>T , LRG_673:g.765A>T | |
| NG_029761.1:g.65689A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.3097A>T MANE Select | ENSP00000380679.4:p.Lys1033Ter | |
| ENST00000397545.8:c.3097A>T | ENSP00000380679.4:p.Lys1033Ter | |
| ENST00000572253.5:n.3348A>T | ||
| ENST00000574799.5:n.2634A>T | ||
| NM_017950.3:c.3097A>T | NP_060420.2:p.Lys1033Ter | |
| XM_011524963.1:c.3007A>T | XP_011523265.1:p.Lys1003Ter | |
| XM_011524964.1:c.1918A>T | XP_011523266.1:p.Lys640Ter | |
| XM_011524963.3:c.3007A>T | XP_011523265.1:p.Lys1003Ter | |
| XM_011524964.3:c.1918A>T | XP_011523266.1:p.Lys640Ter | |
| XM_024450821.1:c.3007A>T | XP_024306589.1:p.Lys1003Ter | |
| XR_934495.2:n.3215A>T | ||
| NM_017950.4:c.3097A>T MANE Select | NP_060420.2:p.Lys1033Ter |