Linked Data
ClinVar Variation Id:
462877
ClinVar RCV Id:
RCV000526391
dbSNP Id:
rs1430968530
gnomAD v3:
9-6540102-T-A
gnomAD v4:
9-6540102-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6540102T>A , CM000671.2:g.6540102T>A | GRCh38 |
| NC_000009.11:g.6540102T>A , CM000671.1:g.6540102T>A | GRCh37 |
| NC_000009.10:g.6530102T>A | NCBI36 |
| NG_016397.1:g.110591A>T , LRG_643:g.110591A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2614A>T MANE Select | ENSP00000370737.4:p.Lys872Ter | |
| ENST00000638233.1:n.1049A>T | ||
| ENST00000638661.1:c.814A>T | ENSP00000491369.1:p.Lys272Ter | |
| ENST00000638694.1:n.801A>T | ||
| ENST00000639318.1:c.770-3866A>T | ENSP00000491932.1:n.770-3866A>T | |
| ENST00000639364.1:n.2314A>T | ||
| ENST00000639443.1:n.2182A>T | ||
| ENST00000639461.1:n.1715A>T | ||
| ENST00000639639.1:c.316A>T | ENSP00000491312.1:p.Lys106Ter | |
| ENST00000639954.1:n.2322A>T | ||
| ENST00000640505.1:n.853A>T | ||
| ENST00000321612.6:c.2614A>T | ENSP00000370737.3:p.Lys872Ter | |
| ENST00000477960.1:n.78A>T | ||
| NM_000170.2:c.2614A>T , LRG_643t1:c.2614A>T | NP_000161.2:p.Lys872Ter | |
| NM_000170.3:c.2614A>T MANE Select | NP_000161.2:p.Lys872Ter |